Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.197434844_197434845del | CA2586967863 | CRB1 | c.2981_2982del (p.Lys994ArgfsTer3) c.1862_1863del (p.Lys621ArgfsTer3) c.1124_1125del (p.Lys375ArgfsTer3) c.2645_2646del (p.Lys882ArgfsTer3) c.2909_2910del (p.Lys970ArgfsTer3) c.2129-756_2129-755del (n.2129-756_2129-755del) n.2982_2983del n.3190_3191del c.2399_2400del (p.Lys800ArgfsTer3) c.1424_1425del (p.Lys475ArgfsTer3) c.2138_2139del (p.Lys713ArgfsTer3) c.3116_3117del (p.Lys1039ArgfsTer3) n.2934_2935del n.3142_3143del | ClinVar |
1 | g.197434842A= | CA1146551840 | CRB1 | c.2979A= (p.Glu993=) c.1860A= (p.Glu620=) c.1122A= (p.Glu374=) c.2643A= (p.Glu881=) c.2907A= (p.Glu969=) c.2129-758A= (n.2129-758A=) n.2980A= n.3188A= c.2397A= (p.Glu799=) c.1422A= (p.Glu474=) c.2136A= (p.Glu712=) c.3114A= (p.Glu1038=) n.2932A= n.3140A= | |
1 | g.197434842A>C | CA344044237 | CRB1 | c.2979A>C (p.Glu993Asp) c.1860A>C (p.Glu620Asp) c.1122A>C (p.Glu374Asp) c.2643A>C (p.Glu881Asp) c.2907A>C (p.Glu969Asp) c.2129-758A>C (n.2129-758A>C) n.2980A>C n.3188A>C c.2397A>C (p.Glu799Asp) c.1422A>C (p.Glu474Asp) c.2136A>C (p.Glu712Asp) c.3114A>C (p.Glu1038Asp) n.2932A>C n.3140A>C | |
1 | g.197434842A>G | CA1312255 | CRB1 | c.2979A>G (p.Glu993=) c.1860A>G (p.Glu620=) c.1122A>G (p.Glu374=) c.2643A>G (p.Glu881=) c.2907A>G (p.Glu969=) c.2129-758A>G (n.2129-758A>G) n.2980A>G n.3188A>G c.2397A>G (p.Glu799=) c.1422A>G (p.Glu474=) c.2136A>G (p.Glu712=) c.3114A>G (p.Glu1038=) n.2932A>G n.3140A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434842A>T | CA344044242 | CRB1 | c.2979A>T (p.Glu993Asp) c.1860A>T (p.Glu620Asp) c.1122A>T (p.Glu374Asp) c.2643A>T (p.Glu881Asp) c.2907A>T (p.Glu969Asp) c.2129-758A>T (n.2129-758A>T) n.2980A>T n.3188A>T c.2397A>T (p.Glu799Asp) c.1422A>T (p.Glu474Asp) c.2136A>T (p.Glu712Asp) c.3114A>T (p.Glu1038Asp) n.2932A>T n.3140A>T | |
1 | g.197434843A>C | CA344044251 | CRB1 | c.2980A>C (p.Lys994Gln) c.1861A>C (p.Lys621Gln) c.1123A>C (p.Lys375Gln) c.2644A>C (p.Lys882Gln) c.2908A>C (p.Lys970Gln) c.2129-757A>C (n.2129-757A>C) n.2981A>C n.3189A>C c.2398A>C (p.Lys800Gln) c.1423A>C (p.Lys475Gln) c.2137A>C (p.Lys713Gln) c.3115A>C (p.Lys1039Gln) n.2933A>C n.3141A>C | |
1 | g.197434843A>G | CA344044254 | CRB1 | c.2980A>G (p.Lys994Glu) c.1861A>G (p.Lys621Glu) c.1123A>G (p.Lys375Glu) c.2644A>G (p.Lys882Glu) c.2908A>G (p.Lys970Glu) c.2129-757A>G (n.2129-757A>G) n.2981A>G n.3189A>G c.2398A>G (p.Lys800Glu) c.1423A>G (p.Lys475Glu) c.2137A>G (p.Lys713Glu) c.3115A>G (p.Lys1039Glu) n.2933A>G n.3141A>G | ClinVar dbSNP gnomAD v4 |
1 | g.197434843A>T | CA344044273 | CRB1 | c.2980A>T (p.Lys994Ter) c.1861A>T (p.Lys621Ter) c.1123A>T (p.Lys375Ter) c.2644A>T (p.Lys882Ter) c.2908A>T (p.Lys970Ter) c.2129-757A>T (n.2129-757A>T) n.2981A>T n.3189A>T c.2398A>T (p.Lys800Ter) c.1423A>T (p.Lys475Ter) c.2137A>T (p.Lys713Ter) c.3115A>T (p.Lys1039Ter) n.2933A>T n.3141A>T | |
1 | g.197434845_197434927dup | CA2740090447 | CRB1 | c.2982_3064dup (p.Ser1022LysfsTer28) c.1863_1945dup (p.Ser649LysfsTer28) c.1125_1207dup (p.Ser403LysfsTer28) c.2646_2728dup (p.Ser910LysfsTer28) c.2910_2992dup (p.Ser998LysfsTer28) c.2129-755_2129-673dup (n.2129-755_2129-673dup) n.2983_3065dup n.3191_3273dup c.2400_2482dup (p.Ser828LysfsTer28) c.1425_1507dup (p.Ser503LysfsTer28) c.2139_2221dup (p.Ser741LysfsTer28) c.3117_3199dup (p.Ser1067LysfsTer28) n.2935_3017dup n.3143_3225dup | ClinVar |
1 | g.197434844A>C | CA344044278 | CRB1 | c.2981A>C (p.Lys994Thr) c.1862A>C (p.Lys621Thr) c.1124A>C (p.Lys375Thr) c.2645A>C (p.Lys882Thr) c.2909A>C (p.Lys970Thr) c.2129-756A>C (n.2129-756A>C) n.2982A>C n.3190A>C c.2399A>C (p.Lys800Thr) c.1424A>C (p.Lys475Thr) c.2138A>C (p.Lys713Thr) c.3116A>C (p.Lys1039Thr) n.2934A>C n.3142A>C | |
1 | g.197434844A>G | CA344044279 | CRB1 | c.2981A>G (p.Lys994Arg) c.1862A>G (p.Lys621Arg) c.1124A>G (p.Lys375Arg) c.2645A>G (p.Lys882Arg) c.2909A>G (p.Lys970Arg) c.2129-756A>G (n.2129-756A>G) n.2982A>G n.3190A>G c.2399A>G (p.Lys800Arg) c.1424A>G (p.Lys475Arg) c.2138A>G (p.Lys713Arg) c.3116A>G (p.Lys1039Arg) n.2934A>G n.3142A>G | |
1 | g.197434844A>T | CA344044280 | CRB1 | c.2981A>T (p.Lys994Ile) c.1862A>T (p.Lys621Ile) c.1124A>T (p.Lys375Ile) c.2645A>T (p.Lys882Ile) c.2909A>T (p.Lys970Ile) c.2129-756A>T (n.2129-756A>T) n.2982A>T n.3190A>T c.2399A>T (p.Lys800Ile) c.1424A>T (p.Lys475Ile) c.2138A>T (p.Lys713Ile) c.3116A>T (p.Lys1039Ile) n.2934A>T n.3142A>T | |
1 | g.197434845A>C | CA344044288 | CRB1 | c.2982A>C (p.Lys994Asn) c.1863A>C (p.Lys621Asn) c.1125A>C (p.Lys375Asn) c.2646A>C (p.Lys882Asn) c.2910A>C (p.Lys970Asn) c.2129-755A>C (n.2129-755A>C) n.2983A>C n.3191A>C c.2400A>C (p.Lys800Asn) c.1425A>C (p.Lys475Asn) c.2139A>C (p.Lys713Asn) c.3117A>C (p.Lys1039Asn) n.2935A>C n.3143A>C | |
1 | g.197434845A>G | CA422672580 | CRB1 | c.2982A>G (p.Lys994=) c.1863A>G (p.Lys621=) c.1125A>G (p.Lys375=) c.2646A>G (p.Lys882=) c.2910A>G (p.Lys970=) c.2129-755A>G (n.2129-755A>G) n.2983A>G n.3191A>G c.2400A>G (p.Lys800=) c.1425A>G (p.Lys475=) c.2139A>G (p.Lys713=) c.3117A>G (p.Lys1039=) n.2935A>G n.3143A>G | |
1 | g.197434845A>T | CA344044291 | CRB1 | c.2982A>T (p.Lys994Asn) c.1863A>T (p.Lys621Asn) c.1125A>T (p.Lys375Asn) c.2646A>T (p.Lys882Asn) c.2910A>T (p.Lys970Asn) c.2129-755A>T (n.2129-755A>T) n.2983A>T n.3191A>T c.2400A>T (p.Lys800Asn) c.1425A>T (p.Lys475Asn) c.2139A>T (p.Lys713Asn) c.3117A>T (p.Lys1039Asn) n.2935A>T n.3143A>T | |
1 | g.197434846G>A | CA1312256 | CRB1 | c.2983G>A (p.Glu995Lys) c.1864G>A (p.Glu622Lys) c.1126G>A (p.Glu376Lys) c.2647G>A (p.Glu883Lys) c.2911G>A (p.Glu971Lys) c.2129-754G>A (n.2129-754G>A) n.2984G>A n.3192G>A c.2401G>A (p.Glu801Lys) c.1426G>A (p.Glu476Lys) c.2140G>A (p.Glu714Lys) c.3118G>A (p.Glu1040Lys) n.2936G>A n.3144G>A | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.197434846G>C | CA344044299 | CRB1 | c.2983G>C (p.Glu995Gln) c.1864G>C (p.Glu622Gln) c.1126G>C (p.Glu376Gln) c.2647G>C (p.Glu883Gln) c.2911G>C (p.Glu971Gln) c.2129-754G>C (n.2129-754G>C) n.2984G>C n.3192G>C c.2401G>C (p.Glu801Gln) c.1426G>C (p.Glu476Gln) c.2140G>C (p.Glu714Gln) c.3118G>C (p.Glu1040Gln) n.2936G>C n.3144G>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197434846G= | CA1140762958 | CRB1 | c.2983G= (p.Glu995=) c.1864G= (p.Glu622=) c.1126G= (p.Glu376=) c.2647G= (p.Glu883=) c.2911G= (p.Glu971=) c.2129-754G= (n.2129-754G=) n.2984G= n.3192G= c.2401G= (p.Glu801=) c.1426G= (p.Glu476=) c.2140G= (p.Glu714=) c.3118G= (p.Glu1040=) n.2936G= n.3144G= | |
1 | g.197434846G>T | CA228028 | CRB1 | c.2983G>T (p.Glu995Ter) c.1864G>T (p.Glu622Ter) c.1126G>T (p.Glu376Ter) c.2647G>T (p.Glu883Ter) c.2911G>T (p.Glu971Ter) c.2129-754G>T (n.2129-754G>T) n.2984G>T n.3192G>T c.2401G>T (p.Glu801Ter) c.1426G>T (p.Glu476Ter) c.2140G>T (p.Glu714Ter) c.3118G>T (p.Glu1040Ter) n.2936G>T n.3144G>T | ClinVar dbSNP |
1 | g.197434847A= | CA1218068690 | CRB1 | c.2984A= (p.Glu995=) c.1865A= (p.Glu622=) c.1127A= (p.Glu376=) c.2648A= (p.Glu883=) c.2912A= (p.Glu971=) c.2129-753A= (n.2129-753A=) n.2985A= n.3193A= c.2402A= (p.Glu801=) c.1427A= (p.Glu476=) c.2141A= (p.Glu714=) c.3119A= (p.Glu1040=) n.2937A= n.3145A= | |
1 | g.197434847A>C | CA344044301 | CRB1 | c.2984A>C (p.Glu995Ala) c.1865A>C (p.Glu622Ala) c.1127A>C (p.Glu376Ala) c.2648A>C (p.Glu883Ala) c.2912A>C (p.Glu971Ala) c.2129-753A>C (n.2129-753A>C) n.2985A>C n.3193A>C c.2402A>C (p.Glu801Ala) c.1427A>C (p.Glu476Ala) c.2141A>C (p.Glu714Ala) c.3119A>C (p.Glu1040Ala) n.2937A>C n.3145A>C | |
1 | g.197434847A>G | CA1312257 | CRB1 | c.2984A>G (p.Glu995Gly) c.1865A>G (p.Glu622Gly) c.1127A>G (p.Glu376Gly) c.2648A>G (p.Glu883Gly) c.2912A>G (p.Glu971Gly) c.2129-753A>G (n.2129-753A>G) n.2985A>G n.3193A>G c.2402A>G (p.Glu801Gly) c.1427A>G (p.Glu476Gly) c.2141A>G (p.Glu714Gly) c.3119A>G (p.Glu1040Gly) n.2937A>G n.3145A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197434847A>T | CA344044305 | CRB1 | c.2984A>T (p.Glu995Val) c.1865A>T (p.Glu622Val) c.1127A>T (p.Glu376Val) c.2648A>T (p.Glu883Val) c.2912A>T (p.Glu971Val) c.2129-753A>T (n.2129-753A>T) n.2985A>T n.3193A>T c.2402A>T (p.Glu801Val) c.1427A>T (p.Glu476Val) c.2141A>T (p.Glu714Val) c.3119A>T (p.Glu1040Val) n.2937A>T n.3145A>T | COSMIC COSMIC |
1 | g.197434848G>A | CA422672582 | CRB1 | c.2985G>A (p.Glu995=) c.1866G>A (p.Glu622=) c.1128G>A (p.Glu376=) c.2649G>A (p.Glu883=) c.2913G>A (p.Glu971=) c.2129-752G>A (n.2129-752G>A) n.2986G>A n.3194G>A c.2403G>A (p.Glu801=) c.1428G>A (p.Glu476=) c.2142G>A (p.Glu714=) c.3120G>A (p.Glu1040=) n.2938G>A n.3146G>A | gnomAD v4 |
1 | g.197434848G>C | CA344044312 | CRB1 | c.2985G>C (p.Glu995Asp) c.1866G>C (p.Glu622Asp) c.1128G>C (p.Glu376Asp) c.2649G>C (p.Glu883Asp) c.2913G>C (p.Glu971Asp) c.2129-752G>C (n.2129-752G>C) n.2986G>C n.3194G>C c.2403G>C (p.Glu801Asp) c.1428G>C (p.Glu476Asp) c.2142G>C (p.Glu714Asp) c.3120G>C (p.Glu1040Asp) n.2938G>C n.3146G>C | |
1 | g.197434848G= | CA1148563041 | CRB1 | c.2985G= (p.Glu995=) c.1866G= (p.Glu622=) c.1128G= (p.Glu376=) c.2649G= (p.Glu883=) c.2913G= (p.Glu971=) c.2129-752G= (n.2129-752G=) n.2986G= n.3194G= c.2403G= (p.Glu801=) c.1428G= (p.Glu476=) c.2142G= (p.Glu714=) c.3120G= (p.Glu1040=) n.2938G= n.3146G= | |
1 | g.197434848G>T | CA1312258 | CRB1 | c.2985G>T (p.Glu995Asp) c.1866G>T (p.Glu622Asp) c.1128G>T (p.Glu376Asp) c.2649G>T (p.Glu883Asp) c.2913G>T (p.Glu971Asp) c.2129-752G>T (n.2129-752G>T) n.2986G>T n.3194G>T c.2403G>T (p.Glu801Asp) c.1428G>T (p.Glu476Asp) c.2142G>T (p.Glu714Asp) c.3120G>T (p.Glu1040Asp) n.2938G>T n.3146G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434849C>A | CA344044315 | CRB1 | c.2986C>A (p.Pro996Thr) c.1867C>A (p.Pro623Thr) c.1129C>A (p.Pro377Thr) c.2650C>A (p.Pro884Thr) c.2914C>A (p.Pro972Thr) c.2129-751C>A (n.2129-751C>A) n.2987C>A n.3195C>A c.2404C>A (p.Pro802Thr) c.1429C>A (p.Pro477Thr) c.2143C>A (p.Pro715Thr) c.3121C>A (p.Pro1041Thr) n.2939C>A n.3147C>A | gnomAD v4 |
1 | g.197434849C>G | CA344044317 | CRB1 | c.2986C>G (p.Pro996Ala) c.1867C>G (p.Pro623Ala) c.1129C>G (p.Pro377Ala) c.2650C>G (p.Pro884Ala) c.2914C>G (p.Pro972Ala) c.2129-751C>G (n.2129-751C>G) n.2987C>G n.3195C>G c.2404C>G (p.Pro802Ala) c.1429C>G (p.Pro477Ala) c.2143C>G (p.Pro715Ala) c.3121C>G (p.Pro1041Ala) n.2939C>G n.3147C>G | gnomAD v4 |
1 | g.197434849C>T | CA344044320 | CRB1 | c.2986C>T (p.Pro996Ser) c.1867C>T (p.Pro623Ser) c.1129C>T (p.Pro377Ser) c.2650C>T (p.Pro884Ser) c.2914C>T (p.Pro972Ser) c.2129-751C>T (n.2129-751C>T) n.2987C>T n.3195C>T c.2404C>T (p.Pro802Ser) c.1429C>T (p.Pro477Ser) c.2143C>T (p.Pro715Ser) c.3121C>T (p.Pro1041Ser) n.2939C>T n.3147C>T | |
1 | g.197434849_197434850insATTTGCAATAC | CA1218068691 | CRB1 | c.2986_2987insATTTGCAATAC (p.Pro996HisfsTer30) c.1867_1868insATTTGCAATAC (p.Pro623HisfsTer30) c.1129_1130insATTTGCAATAC (p.Pro377HisfsTer30) c.2650_2651insATTTGCAATAC (p.Pro884HisfsTer30) c.2914_2915insATTTGCAATAC (p.Pro972HisfsTer30) c.2129-751_2129-750insATTTGCAATAC (n.2129-751_2129-750insATTTGCAATAC) n.2987_2988insATTTGCAATAC n.3195_3196insATTTGCAATAC c.2404_2405insATTTGCAATAC (p.Pro802HisfsTer30) c.1429_1430insATTTGCAATAC (p.Pro477HisfsTer30) c.2143_2144insATTTGCAATAC (p.Pro715HisfsTer30) c.3121_3122insATTTGCAATAC (p.Pro1041HisfsTer30) n.2939_2940insATTTGCAATAC n.3147_3148insATTTGCAATAC | dbSNP |
1 | g.197434850C>A | CA344044326 | CRB1 | c.2987C>A (p.Pro996His) c.1868C>A (p.Pro623His) c.1130C>A (p.Pro377His) c.2651C>A (p.Pro884His) c.2915C>A (p.Pro972His) c.2129-750C>A (n.2129-750C>A) n.2988C>A n.3196C>A c.2405C>A (p.Pro802His) c.1430C>A (p.Pro477His) c.2144C>A (p.Pro715His) c.3122C>A (p.Pro1041His) n.2940C>A n.3148C>A | |
1 | g.197434850C>G | CA344044327 | CRB1 | c.2987C>G (p.Pro996Arg) c.1868C>G (p.Pro623Arg) c.1130C>G (p.Pro377Arg) c.2651C>G (p.Pro884Arg) c.2915C>G (p.Pro972Arg) c.2129-750C>G (n.2129-750C>G) n.2988C>G n.3196C>G c.2405C>G (p.Pro802Arg) c.1430C>G (p.Pro477Arg) c.2144C>G (p.Pro715Arg) c.3122C>G (p.Pro1041Arg) n.2940C>G n.3148C>G | |
1 | g.197434850C>T | CA344044328 | CRB1 | c.2987C>T (p.Pro996Leu) c.1868C>T (p.Pro623Leu) c.1130C>T (p.Pro377Leu) c.2651C>T (p.Pro884Leu) c.2915C>T (p.Pro972Leu) c.2129-750C>T (n.2129-750C>T) n.2988C>T n.3196C>T c.2405C>T (p.Pro802Leu) c.1430C>T (p.Pro477Leu) c.2144C>T (p.Pro715Leu) c.3122C>T (p.Pro1041Leu) n.2940C>T n.3148C>T | |
1 | g.197434851T>A | CA422672585 | CRB1 | c.2988T>A (p.Pro996=) c.1869T>A (p.Pro623=) c.1131T>A (p.Pro377=) c.2652T>A (p.Pro884=) c.2916T>A (p.Pro972=) c.2129-749T>A (n.2129-749T>A) n.2989T>A n.3197T>A c.2406T>A (p.Pro802=) c.1431T>A (p.Pro477=) c.2145T>A (p.Pro715=) c.3123T>A (p.Pro1041=) n.2941T>A n.3149T>A | |
1 | g.197434851T>C | CA422672586 | CRB1 | c.2988T>C (p.Pro996=) c.1869T>C (p.Pro623=) c.1131T>C (p.Pro377=) c.2652T>C (p.Pro884=) c.2916T>C (p.Pro972=) c.2129-749T>C (n.2129-749T>C) n.2989T>C n.3197T>C c.2406T>C (p.Pro802=) c.1431T>C (p.Pro477=) c.2145T>C (p.Pro715=) c.3123T>C (p.Pro1041=) n.2941T>C n.3149T>C | |
1 | g.197434851T>G | CA422672587 | CRB1 | c.2988T>G (p.Pro996=) c.1869T>G (p.Pro623=) c.1131T>G (p.Pro377=) c.2652T>G (p.Pro884=) c.2916T>G (p.Pro972=) c.2129-749T>G (n.2129-749T>G) n.2989T>G n.3197T>G c.2406T>G (p.Pro802=) c.1431T>G (p.Pro477=) c.2145T>G (p.Pro715=) c.3123T>G (p.Pro1041=) n.2941T>G n.3149T>G | |
1 | g.197434851T= | CA1218068692 | CRB1 | c.2988T= (p.Pro996=) c.1869T= (p.Pro623=) c.1131T= (p.Pro377=) c.2652T= (p.Pro884=) c.2916T= (p.Pro972=) c.2129-749T= (n.2129-749T=) n.2989T= n.3197T= c.2406T= (p.Pro802=) c.1431T= (p.Pro477=) c.2145T= (p.Pro715=) c.3123T= (p.Pro1041=) n.2941T= n.3149T= | |
1 | g.197434851_197434852insAATGA | CA1218068693 | CRB1 | c.2988_2989insAATGA (p.Glu997AsnfsTer27) c.1869_1870insAATGA (p.Glu624AsnfsTer27) c.1131_1132insAATGA (p.Glu378AsnfsTer27) c.2652_2653insAATGA (p.Glu885AsnfsTer27) c.2916_2917insAATGA (p.Glu973AsnfsTer27) c.2129-749_2129-748insAATGA (n.2129-749_2129-748insAATGA) n.2989_2990insAATGA n.3197_3198insAATGA c.2406_2407insAATGA (p.Glu803AsnfsTer27) c.1431_1432insAATGA (p.Glu478AsnfsTer27) c.2145_2146insAATGA (p.Glu716AsnfsTer27) c.3123_3124insAATGA (p.Glu1042AsnfsTer27) n.2941_2942insAATGA n.3149_3150insAATGA | dbSNP |
1 | g.197434852G>A | CA344044331 | CRB1 | c.2989G>A (p.Glu997Lys) c.1870G>A (p.Glu624Lys) c.1132G>A (p.Glu378Lys) c.2653G>A (p.Glu885Lys) c.2917G>A (p.Glu973Lys) c.2129-748G>A (n.2129-748G>A) n.2990G>A n.3198G>A c.2407G>A (p.Glu803Lys) c.1432G>A (p.Glu478Lys) c.2146G>A (p.Glu716Lys) c.3124G>A (p.Glu1042Lys) n.2942G>A n.3150G>A | |
1 | g.197434852G>C | CA344044329 | CRB1 | c.2989G>C (p.Glu997Gln) c.1870G>C (p.Glu624Gln) c.1132G>C (p.Glu378Gln) c.2653G>C (p.Glu885Gln) c.2917G>C (p.Glu973Gln) c.2129-748G>C (n.2129-748G>C) n.2990G>C n.3198G>C c.2407G>C (p.Glu803Gln) c.1432G>C (p.Glu478Gln) c.2146G>C (p.Glu716Gln) c.3124G>C (p.Glu1042Gln) n.2942G>C n.3150G>C | |
1 | g.197434852G>T | CA344044330 | CRB1 | c.2989G>T (p.Glu997Ter) c.1870G>T (p.Glu624Ter) c.1132G>T (p.Glu378Ter) c.2653G>T (p.Glu885Ter) c.2917G>T (p.Glu973Ter) c.2129-748G>T (n.2129-748G>T) n.2990G>T n.3198G>T c.2407G>T (p.Glu803Ter) c.1432G>T (p.Glu478Ter) c.2146G>T (p.Glu716Ter) c.3124G>T (p.Glu1042Ter) n.2942G>T n.3150G>T | gnomAD v4 |
1 | g.197434853A>C | CA344044332 | CRB1 | c.2990A>C (p.Glu997Ala) c.1871A>C (p.Glu624Ala) c.1133A>C (p.Glu378Ala) c.2654A>C (p.Glu885Ala) c.2918A>C (p.Glu973Ala) c.2129-747A>C (n.2129-747A>C) n.2991A>C n.3199A>C c.2408A>C (p.Glu803Ala) c.1433A>C (p.Glu478Ala) c.2147A>C (p.Glu716Ala) c.3125A>C (p.Glu1042Ala) n.2943A>C n.3151A>C | |
1 | g.197434853A>G | CA344044333 | CRB1 | c.2990A>G (p.Glu997Gly) c.1871A>G (p.Glu624Gly) c.1133A>G (p.Glu378Gly) c.2654A>G (p.Glu885Gly) c.2918A>G (p.Glu973Gly) c.2129-747A>G (n.2129-747A>G) n.2991A>G n.3199A>G c.2408A>G (p.Glu803Gly) c.1433A>G (p.Glu478Gly) c.2147A>G (p.Glu716Gly) c.3125A>G (p.Glu1042Gly) n.2943A>G n.3151A>G | |
1 | g.197434853A>T | CA344044334 | CRB1 | c.2990A>T (p.Glu997Val) c.1871A>T (p.Glu624Val) c.1133A>T (p.Glu378Val) c.2654A>T (p.Glu885Val) c.2918A>T (p.Glu973Val) c.2129-747A>T (n.2129-747A>T) n.2991A>T n.3199A>T c.2408A>T (p.Glu803Val) c.1433A>T (p.Glu478Val) c.2147A>T (p.Glu716Val) c.3125A>T (p.Glu1042Val) n.2943A>T n.3151A>T | |
1 | g.197434854A>C | CA344044337 | CRB1 | c.2991A>C (p.Glu997Asp) c.1872A>C (p.Glu624Asp) c.1134A>C (p.Glu378Asp) c.2655A>C (p.Glu885Asp) c.2919A>C (p.Glu973Asp) c.2129-746A>C (n.2129-746A>C) n.2992A>C n.3200A>C c.2409A>C (p.Glu803Asp) c.1434A>C (p.Glu478Asp) c.2148A>C (p.Glu716Asp) c.3126A>C (p.Glu1042Asp) n.2944A>C n.3152A>C | |
1 | g.197434854A>G | CA422672589 | CRB1 | c.2991A>G (p.Glu997=) c.1872A>G (p.Glu624=) c.1134A>G (p.Glu378=) c.2655A>G (p.Glu885=) c.2919A>G (p.Glu973=) c.2129-746A>G (n.2129-746A>G) n.2992A>G n.3200A>G c.2409A>G (p.Glu803=) c.1434A>G (p.Glu478=) c.2148A>G (p.Glu716=) c.3126A>G (p.Glu1042=) n.2944A>G n.3152A>G | |
1 | g.197434854A>T | CA344044341 | CRB1 | c.2991A>T (p.Glu997Asp) c.1872A>T (p.Glu624Asp) c.1134A>T (p.Glu378Asp) c.2655A>T (p.Glu885Asp) c.2919A>T (p.Glu973Asp) c.2129-746A>T (n.2129-746A>T) n.2992A>T n.3200A>T c.2409A>T (p.Glu803Asp) c.1434A>T (p.Glu478Asp) c.2148A>T (p.Glu716Asp) c.3126A>T (p.Glu1042Asp) n.2944A>T n.3152A>T | |
1 | g.197434855T>A | CA344044346 | CRB1 | c.2992T>A (p.Phe998Ile) c.1873T>A (p.Phe625Ile) c.1135T>A (p.Phe379Ile) c.2656T>A (p.Phe886Ile) c.2920T>A (p.Phe974Ile) c.2129-745T>A (n.2129-745T>A) n.2993T>A n.3201T>A c.2410T>A (p.Phe804Ile) c.1435T>A (p.Phe479Ile) c.2149T>A (p.Phe717Ile) c.3127T>A (p.Phe1043Ile) n.2945T>A n.3153T>A | |
1 | g.197434855T>C | CA344044356 | CRB1 | c.2992T>C (p.Phe998Leu) c.1873T>C (p.Phe625Leu) c.1135T>C (p.Phe379Leu) c.2656T>C (p.Phe886Leu) c.2920T>C (p.Phe974Leu) c.2129-745T>C (n.2129-745T>C) n.2993T>C n.3201T>C c.2410T>C (p.Phe804Leu) c.1435T>C (p.Phe479Leu) c.2149T>C (p.Phe717Leu) c.3127T>C (p.Phe1043Leu) n.2945T>C n.3153T>C | dbSNP |
1 | g.197434855T>G | CA344044353 | CRB1 | c.2992T>G (p.Phe998Val) c.1873T>G (p.Phe625Val) c.1135T>G (p.Phe379Val) c.2656T>G (p.Phe886Val) c.2920T>G (p.Phe974Val) c.2129-745T>G (n.2129-745T>G) n.2993T>G n.3201T>G c.2410T>G (p.Phe804Val) c.1435T>G (p.Phe479Val) c.2149T>G (p.Phe717Val) c.3127T>G (p.Phe1043Val) n.2945T>G n.3153T>G | dbSNP |
1 | g.197434855T= | CA1218068694 | CRB1 | c.2992T= (p.Phe998=) c.1873T= (p.Phe625=) c.1135T= (p.Phe379=) c.2656T= (p.Phe886=) c.2920T= (p.Phe974=) c.2129-745T= (n.2129-745T=) n.2993T= n.3201T= c.2410T= (p.Phe804=) c.1435T= (p.Phe479=) c.2149T= (p.Phe717=) c.3127T= (p.Phe1043=) n.2945T= n.3153T= | |
1 | g.197434856T>A | CA344044358 | CRB1 | c.2993T>A (p.Phe998Tyr) c.1874T>A (p.Phe625Tyr) c.1136T>A (p.Phe379Tyr) c.2657T>A (p.Phe886Tyr) c.2921T>A (p.Phe974Tyr) c.2129-744T>A (n.2129-744T>A) n.2994T>A n.3202T>A c.2411T>A (p.Phe804Tyr) c.1436T>A (p.Phe479Tyr) c.2150T>A (p.Phe717Tyr) c.3128T>A (p.Phe1043Tyr) n.2946T>A n.3154T>A | |
1 | g.197434856T>C | CA344044359 | CRB1 | c.2993T>C (p.Phe998Ser) c.1874T>C (p.Phe625Ser) c.1136T>C (p.Phe379Ser) c.2657T>C (p.Phe886Ser) c.2921T>C (p.Phe974Ser) c.2129-744T>C (n.2129-744T>C) n.2994T>C n.3202T>C c.2411T>C (p.Phe804Ser) c.1436T>C (p.Phe479Ser) c.2150T>C (p.Phe717Ser) c.3128T>C (p.Phe1043Ser) n.2946T>C n.3154T>C | |
1 | g.197434856T>G | CA344044360 | CRB1 | c.2993T>G (p.Phe998Cys) c.1874T>G (p.Phe625Cys) c.1136T>G (p.Phe379Cys) c.2657T>G (p.Phe886Cys) c.2921T>G (p.Phe974Cys) c.2129-744T>G (n.2129-744T>G) n.2994T>G n.3202T>G c.2411T>G (p.Phe804Cys) c.1436T>G (p.Phe479Cys) c.2150T>G (p.Phe717Cys) c.3128T>G (p.Phe1043Cys) n.2946T>G n.3154T>G | dbSNP gnomAD v2 |
1 | g.197434856T= | CA1218068695 | CRB1 | c.2993T= (p.Phe998=) c.1874T= (p.Phe625=) c.1136T= (p.Phe379=) c.2657T= (p.Phe886=) c.2921T= (p.Phe974=) c.2129-744T= (n.2129-744T=) n.2994T= n.3202T= c.2411T= (p.Phe804=) c.1436T= (p.Phe479=) c.2150T= (p.Phe717=) c.3128T= (p.Phe1043=) n.2946T= n.3154T= | |
1 | g.197434857T>A | CA344044364 | CRB1 | c.2994T>A (p.Phe998Leu) c.1875T>A (p.Phe625Leu) c.1137T>A (p.Phe379Leu) c.2658T>A (p.Phe886Leu) c.2922T>A (p.Phe974Leu) c.2129-743T>A (n.2129-743T>A) n.2995T>A n.3203T>A c.2412T>A (p.Phe804Leu) c.1437T>A (p.Phe479Leu) c.2151T>A (p.Phe717Leu) c.3129T>A (p.Phe1043Leu) n.2947T>A n.3155T>A | |
1 | g.197434857T>C | CA422672592 | CRB1 | c.2994T>C (p.Phe998=) c.1875T>C (p.Phe625=) c.1137T>C (p.Phe379=) c.2658T>C (p.Phe886=) c.2922T>C (p.Phe974=) c.2129-743T>C (n.2129-743T>C) n.2995T>C n.3203T>C c.2412T>C (p.Phe804=) c.1437T>C (p.Phe479=) c.2151T>C (p.Phe717=) c.3129T>C (p.Phe1043=) n.2947T>C n.3155T>C | |
1 | g.197434857T>G | CA344044366 | CRB1 | c.2994T>G (p.Phe998Leu) c.1875T>G (p.Phe625Leu) c.1137T>G (p.Phe379Leu) c.2658T>G (p.Phe886Leu) c.2922T>G (p.Phe974Leu) c.2129-743T>G (n.2129-743T>G) n.2995T>G n.3203T>G c.2412T>G (p.Phe804Leu) c.1437T>G (p.Phe479Leu) c.2151T>G (p.Phe717Leu) c.3129T>G (p.Phe1043Leu) n.2947T>G n.3155T>G | |
1 | g.197434858C>A | CA344044369 | CRB1 | c.2995C>A (p.Leu999Ile) c.1876C>A (p.Leu626Ile) c.1138C>A (p.Leu380Ile) c.2659C>A (p.Leu887Ile) c.2923C>A (p.Leu975Ile) c.2129-742C>A (n.2129-742C>A) n.2996C>A n.3204C>A c.2413C>A (p.Leu805Ile) c.1438C>A (p.Leu480Ile) c.2152C>A (p.Leu718Ile) c.3130C>A (p.Leu1044Ile) n.2948C>A n.3156C>A | |
1 | g.197434858C= | CA1218068696 | CRB1 | c.2995C= (p.Leu999=) c.1876C= (p.Leu626=) c.1138C= (p.Leu380=) c.2659C= (p.Leu887=) c.2923C= (p.Leu975=) c.2129-742C= (n.2129-742C=) n.2996C= n.3204C= c.2413C= (p.Leu805=) c.1438C= (p.Leu480=) c.2152C= (p.Leu718=) c.3130C= (p.Leu1044=) n.2948C= n.3156C= | |
1 | g.197434858C>G | CA344044371 | CRB1 | c.2995C>G (p.Leu999Val) c.1876C>G (p.Leu626Val) c.1138C>G (p.Leu380Val) c.2659C>G (p.Leu887Val) c.2923C>G (p.Leu975Val) c.2129-742C>G (n.2129-742C>G) n.2996C>G n.3204C>G c.2413C>G (p.Leu805Val) c.1438C>G (p.Leu480Val) c.2152C>G (p.Leu718Val) c.3130C>G (p.Leu1044Val) n.2948C>G n.3156C>G | |
1 | g.197434858C>T | CA35906752 | CRB1 | c.2995C>T (p.Leu999Phe) c.1876C>T (p.Leu626Phe) c.1138C>T (p.Leu380Phe) c.2659C>T (p.Leu887Phe) c.2923C>T (p.Leu975Phe) c.2129-742C>T (n.2129-742C>T) n.2996C>T n.3204C>T c.2413C>T (p.Leu805Phe) c.1438C>T (p.Leu480Phe) c.2152C>T (p.Leu718Phe) c.3130C>T (p.Leu1044Phe) n.2948C>T n.3156C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434859T>A | CA344044378 | CRB1 | c.2996T>A (p.Leu999His) c.1877T>A (p.Leu626His) c.1139T>A (p.Leu380His) c.2660T>A (p.Leu887His) c.2924T>A (p.Leu975His) c.2129-741T>A (n.2129-741T>A) n.2997T>A n.3205T>A c.2414T>A (p.Leu805His) c.1439T>A (p.Leu480His) c.2153T>A (p.Leu718His) c.3131T>A (p.Leu1044His) n.2949T>A n.3157T>A | |
1 | g.197434859T>C | CA344044380 | CRB1 | c.2996T>C (p.Leu999Pro) c.1877T>C (p.Leu626Pro) c.1139T>C (p.Leu380Pro) c.2660T>C (p.Leu887Pro) c.2924T>C (p.Leu975Pro) c.2129-741T>C (n.2129-741T>C) n.2997T>C n.3205T>C c.2414T>C (p.Leu805Pro) c.1439T>C (p.Leu480Pro) c.2153T>C (p.Leu718Pro) c.3131T>C (p.Leu1044Pro) n.2949T>C n.3157T>C | |
1 | g.197434859T>G | CA1312259 | CRB1 | c.2996T>G (p.Leu999Arg) c.1877T>G (p.Leu626Arg) c.1139T>G (p.Leu380Arg) c.2660T>G (p.Leu887Arg) c.2924T>G (p.Leu975Arg) c.2129-741T>G (n.2129-741T>G) n.2997T>G n.3205T>G c.2414T>G (p.Leu805Arg) c.1439T>G (p.Leu480Arg) c.2153T>G (p.Leu718Arg) c.3131T>G (p.Leu1044Arg) n.2949T>G n.3157T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197434859T= | CA1218068697 | CRB1 | c.2996T= (p.Leu999=) c.1877T= (p.Leu626=) c.1139T= (p.Leu380=) c.2660T= (p.Leu887=) c.2924T= (p.Leu975=) c.2129-741T= (n.2129-741T=) n.2997T= n.3205T= c.2414T= (p.Leu805=) c.1439T= (p.Leu480=) c.2153T= (p.Leu718=) c.3131T= (p.Leu1044=) n.2949T= n.3157T= | |
1 | g.197434860T>A | CA422672595 | CRB1 | c.2997T>A (p.Leu999=) c.1878T>A (p.Leu626=) c.1140T>A (p.Leu380=) c.2661T>A (p.Leu887=) c.2925T>A (p.Leu975=) c.2129-740T>A (n.2129-740T>A) n.2998T>A n.3206T>A c.2415T>A (p.Leu805=) c.1440T>A (p.Leu480=) c.2154T>A (p.Leu718=) c.3132T>A (p.Leu1044=) n.2950T>A n.3158T>A | |
1 | g.197434860T>C | CA422672596 | CRB1 | c.2997T>C (p.Leu999=) c.1878T>C (p.Leu626=) c.1140T>C (p.Leu380=) c.2661T>C (p.Leu887=) c.2925T>C (p.Leu975=) c.2129-740T>C (n.2129-740T>C) n.2998T>C n.3206T>C c.2415T>C (p.Leu805=) c.1440T>C (p.Leu480=) c.2154T>C (p.Leu718=) c.3132T>C (p.Leu1044=) n.2950T>C n.3158T>C | |
1 | g.197434860T>G | CA422672597 | CRB1 | c.2997T>G (p.Leu999=) c.1878T>G (p.Leu626=) c.1140T>G (p.Leu380=) c.2661T>G (p.Leu887=) c.2925T>G (p.Leu975=) c.2129-740T>G (n.2129-740T>G) n.2998T>G n.3206T>G c.2415T>G (p.Leu805=) c.1440T>G (p.Leu480=) c.2154T>G (p.Leu718=) c.3132T>G (p.Leu1044=) n.2950T>G n.3158T>G | |
1 | g.197434861A>C | CA344044394 | CRB1 | c.2998A>C (p.Asn1000His) c.1879A>C (p.Asn627His) c.1141A>C (p.Asn381His) c.2662A>C (p.Asn888His) c.2926A>C (p.Asn976His) c.2129-739A>C (n.2129-739A>C) n.2999A>C n.3207A>C c.2416A>C (p.Asn806His) c.1441A>C (p.Asn481His) c.2155A>C (p.Asn719His) c.3133A>C (p.Asn1045His) n.2951A>C n.3159A>C | |
1 | g.197434861A>G | CA344044393 | CRB1 | c.2998A>G (p.Asn1000Asp) c.1879A>G (p.Asn627Asp) c.1141A>G (p.Asn381Asp) c.2662A>G (p.Asn888Asp) c.2926A>G (p.Asn976Asp) c.2129-739A>G (n.2129-739A>G) n.2999A>G n.3207A>G c.2416A>G (p.Asn806Asp) c.1441A>G (p.Asn481Asp) c.2155A>G (p.Asn719Asp) c.3133A>G (p.Asn1045Asp) n.2951A>G n.3159A>G | |
1 | g.197434861A>T | CA344044391 | CRB1 | c.2998A>T (p.Asn1000Tyr) c.1879A>T (p.Asn627Tyr) c.1141A>T (p.Asn381Tyr) c.2662A>T (p.Asn888Tyr) c.2926A>T (p.Asn976Tyr) c.2129-739A>T (n.2129-739A>T) n.2999A>T n.3207A>T c.2416A>T (p.Asn806Tyr) c.1441A>T (p.Asn481Tyr) c.2155A>T (p.Asn719Tyr) c.3133A>T (p.Asn1045Tyr) n.2951A>T n.3159A>T | |
1 | g.197434862A= | CA1218068698 | CRB1 | c.2999A= (p.Asn1000=) c.1880A= (p.Asn627=) c.1142A= (p.Asn381=) c.2663A= (p.Asn888=) c.2927A= (p.Asn976=) c.2129-738A= (n.2129-738A=) n.3000A= n.3208A= c.2417A= (p.Asn806=) c.1442A= (p.Asn481=) c.2156A= (p.Asn719=) c.3134A= (p.Asn1045=) n.2952A= n.3160A= | |
1 | g.197434862A>C | CA344044395 | CRB1 | c.2999A>C (p.Asn1000Thr) c.1880A>C (p.Asn627Thr) c.1142A>C (p.Asn381Thr) c.2663A>C (p.Asn888Thr) c.2927A>C (p.Asn976Thr) c.2129-738A>C (n.2129-738A>C) n.3000A>C n.3208A>C c.2417A>C (p.Asn806Thr) c.1442A>C (p.Asn481Thr) c.2156A>C (p.Asn719Thr) c.3134A>C (p.Asn1045Thr) n.2952A>C n.3160A>C | dbSNP |
1 | g.197434862A>G | CA344044399 | CRB1 | c.2999A>G (p.Asn1000Ser) c.1880A>G (p.Asn627Ser) c.1142A>G (p.Asn381Ser) c.2663A>G (p.Asn888Ser) c.2927A>G (p.Asn976Ser) c.2129-738A>G (n.2129-738A>G) n.3000A>G n.3208A>G c.2417A>G (p.Asn806Ser) c.1442A>G (p.Asn481Ser) c.2156A>G (p.Asn719Ser) c.3134A>G (p.Asn1045Ser) n.2952A>G n.3160A>G | |
1 | g.197434862A>T | CA344044401 | CRB1 | c.2999A>T (p.Asn1000Ile) c.1880A>T (p.Asn627Ile) c.1142A>T (p.Asn381Ile) c.2663A>T (p.Asn888Ile) c.2927A>T (p.Asn976Ile) c.2129-738A>T (n.2129-738A>T) n.3000A>T n.3208A>T c.2417A>T (p.Asn806Ile) c.1442A>T (p.Asn481Ile) c.2156A>T (p.Asn719Ile) c.3134A>T (p.Asn1045Ile) n.2952A>T n.3160A>T | gnomAD v4 |
1 | g.197434863T>A | CA344044403 | CRB1 | c.3000T>A (p.Asn1000Lys) c.1881T>A (p.Asn627Lys) c.1143T>A (p.Asn381Lys) c.2664T>A (p.Asn888Lys) c.2928T>A (p.Asn976Lys) c.2129-737T>A (n.2129-737T>A) n.3001T>A n.3209T>A c.2418T>A (p.Asn806Lys) c.1443T>A (p.Asn481Lys) c.2157T>A (p.Asn719Lys) c.3135T>A (p.Asn1045Lys) n.2953T>A n.3161T>A | |
1 | g.197434863T>C | CA422672600 | CRB1 | c.3000T>C (p.Asn1000=) c.1881T>C (p.Asn627=) c.1143T>C (p.Asn381=) c.2664T>C (p.Asn888=) c.2928T>C (p.Asn976=) c.2129-737T>C (n.2129-737T>C) n.3001T>C n.3209T>C c.2418T>C (p.Asn806=) c.1443T>C (p.Asn481=) c.2157T>C (p.Asn719=) c.3135T>C (p.Asn1045=) n.2953T>C n.3161T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.197434863T>G | CA344044404 | CRB1 | c.3000T>G (p.Asn1000Lys) c.1881T>G (p.Asn627Lys) c.1143T>G (p.Asn381Lys) c.2664T>G (p.Asn888Lys) c.2928T>G (p.Asn976Lys) c.2129-737T>G (n.2129-737T>G) n.3001T>G n.3209T>G c.2418T>G (p.Asn806Lys) c.1443T>G (p.Asn481Lys) c.2157T>G (p.Asn719Lys) c.3135T>G (p.Asn1045Lys) n.2953T>G n.3161T>G | |
1 | g.197434863T= | CA1218068699 | CRB1 | c.3000T= (p.Asn1000=) c.1881T= (p.Asn627=) c.1143T= (p.Asn381=) c.2664T= (p.Asn888=) c.2928T= (p.Asn976=) c.2129-737T= (n.2129-737T=) n.3001T= n.3209T= c.2418T= (p.Asn806=) c.1443T= (p.Asn481=) c.2157T= (p.Asn719=) c.3135T= (p.Asn1045=) n.2953T= n.3161T= | |
1 | g.197434864A= | CA1218068700 | CRB1 | c.3001A= (p.Ile1001=) c.1882A= (p.Ile628=) c.1144A= (p.Ile382=) c.2665A= (p.Ile889=) c.2929A= (p.Ile977=) c.2129-736A= (n.2129-736A=) n.3002A= n.3210A= c.2419A= (p.Ile807=) c.1444A= (p.Ile482=) c.2158A= (p.Ile720=) c.3136A= (p.Ile1046=) n.2954A= n.3162A= | |
1 | g.197434864A>C | CA344044405 | CRB1 | c.3001A>C (p.Ile1001Leu) c.1882A>C (p.Ile628Leu) c.1144A>C (p.Ile382Leu) c.2665A>C (p.Ile889Leu) c.2929A>C (p.Ile977Leu) c.2129-736A>C (n.2129-736A>C) n.3002A>C n.3210A>C c.2419A>C (p.Ile807Leu) c.1444A>C (p.Ile482Leu) c.2158A>C (p.Ile720Leu) c.3136A>C (p.Ile1046Leu) n.2954A>C n.3162A>C | |
1 | g.197434864A>G | CA344044407 | CRB1 | c.3001A>G (p.Ile1001Val) c.1882A>G (p.Ile628Val) c.1144A>G (p.Ile382Val) c.2665A>G (p.Ile889Val) c.2929A>G (p.Ile977Val) c.2129-736A>G (n.2129-736A>G) n.3002A>G n.3210A>G c.2419A>G (p.Ile807Val) c.1444A>G (p.Ile482Val) c.2158A>G (p.Ile720Val) c.3136A>G (p.Ile1046Val) n.2954A>G n.3162A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.197434864A>T | CA344044411 | CRB1 | c.3001A>T (p.Ile1001Phe) c.1882A>T (p.Ile628Phe) c.1144A>T (p.Ile382Phe) c.2665A>T (p.Ile889Phe) c.2929A>T (p.Ile977Phe) c.2129-736A>T (n.2129-736A>T) n.3002A>T n.3210A>T c.2419A>T (p.Ile807Phe) c.1444A>T (p.Ile482Phe) c.2158A>T (p.Ile720Phe) c.3136A>T (p.Ile1046Phe) n.2954A>T n.3162A>T | |
1 | g.197434865T>A | CA344044413 | CRB1 | c.3002T>A (p.Ile1001Asn) c.1883T>A (p.Ile628Asn) c.1145T>A (p.Ile382Asn) c.2666T>A (p.Ile889Asn) c.2930T>A (p.Ile977Asn) c.2129-735T>A (n.2129-735T>A) n.3003T>A n.3211T>A c.2420T>A (p.Ile807Asn) c.1445T>A (p.Ile482Asn) c.2159T>A (p.Ile720Asn) c.3137T>A (p.Ile1046Asn) n.2955T>A n.3163T>A | |
1 | g.197434865T>C | CA344044414 | CRB1 | c.3002T>C (p.Ile1001Thr) c.1883T>C (p.Ile628Thr) c.1145T>C (p.Ile382Thr) c.2666T>C (p.Ile889Thr) c.2930T>C (p.Ile977Thr) c.2129-735T>C (n.2129-735T>C) n.3003T>C n.3211T>C c.2420T>C (p.Ile807Thr) c.1445T>C (p.Ile482Thr) c.2159T>C (p.Ile720Thr) c.3137T>C (p.Ile1046Thr) n.2955T>C n.3163T>C | |
1 | g.197434865T>G | CA344044415 | CRB1 | c.3002T>G (p.Ile1001Ser) c.1883T>G (p.Ile628Ser) c.1145T>G (p.Ile382Ser) c.2666T>G (p.Ile889Ser) c.2930T>G (p.Ile977Ser) c.2129-735T>G (n.2129-735T>G) n.3003T>G n.3211T>G c.2420T>G (p.Ile807Ser) c.1445T>G (p.Ile482Ser) c.2159T>G (p.Ile720Ser) c.3137T>G (p.Ile1046Ser) n.2955T>G n.3163T>G | |
1 | g.197434866T>A | CA422672602 | CRB1 | c.3003T>A (p.Ile1001=) c.1884T>A (p.Ile628=) c.1146T>A (p.Ile382=) c.2667T>A (p.Ile889=) c.2931T>A (p.Ile977=) c.2129-734T>A (n.2129-734T>A) n.3004T>A n.3212T>A c.2421T>A (p.Ile807=) c.1446T>A (p.Ile482=) c.2160T>A (p.Ile720=) c.3138T>A (p.Ile1046=) n.2956T>A n.3164T>A | dbSNP |
1 | g.197434866T>C | CA422672603 | CRB1 | c.3003T>C (p.Ile1001=) c.1884T>C (p.Ile628=) c.1146T>C (p.Ile382=) c.2667T>C (p.Ile889=) c.2931T>C (p.Ile977=) c.2129-734T>C (n.2129-734T>C) n.3004T>C n.3212T>C c.2421T>C (p.Ile807=) c.1446T>C (p.Ile482=) c.2160T>C (p.Ile720=) c.3138T>C (p.Ile1046=) n.2956T>C n.3164T>C | |
1 | g.197434866T>G | CA344044417 | CRB1 | c.3003T>G (p.Ile1001Met) c.1884T>G (p.Ile628Met) c.1146T>G (p.Ile382Met) c.2667T>G (p.Ile889Met) c.2931T>G (p.Ile977Met) c.2129-734T>G (n.2129-734T>G) n.3004T>G n.3212T>G c.2421T>G (p.Ile807Met) c.1446T>G (p.Ile482Met) c.2160T>G (p.Ile720Met) c.3138T>G (p.Ile1046Met) n.2956T>G n.3164T>G | |
1 | g.197434866T= | CA1218068701 | CRB1 | c.3003T= (p.Ile1001=) c.1884T= (p.Ile628=) c.1146T= (p.Ile382=) c.2667T= (p.Ile889=) c.2931T= (p.Ile977=) c.2129-734T= (n.2129-734T=) n.3004T= n.3212T= c.2421T= (p.Ile807=) c.1446T= (p.Ile482=) c.2160T= (p.Ile720=) c.3138T= (p.Ile1046=) n.2956T= n.3164T= | |
1 | g.197434867A>C | CA344044444 | CRB1 | c.3004A>C (p.Ser1002Arg) c.1885A>C (p.Ser629Arg) c.1147A>C (p.Ser383Arg) c.2668A>C (p.Ser890Arg) c.2932A>C (p.Ser978Arg) c.2129-733A>C (n.2129-733A>C) n.3005A>C n.3213A>C c.2422A>C (p.Ser808Arg) c.1447A>C (p.Ser483Arg) c.2161A>C (p.Ser721Arg) c.3139A>C (p.Ser1047Arg) n.2957A>C n.3165A>C | |
1 | g.197434867A>G | CA344044441 | CRB1 | c.3004A>G (p.Ser1002Gly) c.1885A>G (p.Ser629Gly) c.1147A>G (p.Ser383Gly) c.2668A>G (p.Ser890Gly) c.2932A>G (p.Ser978Gly) c.2129-733A>G (n.2129-733A>G) n.3005A>G n.3213A>G c.2422A>G (p.Ser808Gly) c.1447A>G (p.Ser483Gly) c.2161A>G (p.Ser721Gly) c.3139A>G (p.Ser1047Gly) n.2957A>G n.3165A>G | |
1 | g.197434867A>T | CA344044431 | CRB1 | c.3004A>T (p.Ser1002Cys) c.1885A>T (p.Ser629Cys) c.1147A>T (p.Ser383Cys) c.2668A>T (p.Ser890Cys) c.2932A>T (p.Ser978Cys) c.2129-733A>T (n.2129-733A>T) n.3005A>T n.3213A>T c.2422A>T (p.Ser808Cys) c.1447A>T (p.Ser483Cys) c.2161A>T (p.Ser721Cys) c.3139A>T (p.Ser1047Cys) n.2957A>T n.3165A>T | |
1 | g.197434868G>A | CA344044448 | CRB1 | c.3005G>A (p.Ser1002Asn) c.1886G>A (p.Ser629Asn) c.1148G>A (p.Ser383Asn) c.2669G>A (p.Ser890Asn) c.2933G>A (p.Ser978Asn) c.2129-732G>A (n.2129-732G>A) n.3006G>A n.3214G>A c.2423G>A (p.Ser808Asn) c.1448G>A (p.Ser483Asn) c.2162G>A (p.Ser721Asn) c.3140G>A (p.Ser1047Asn) n.2958G>A n.3166G>A | dbSNP |
1 | g.197434868G>C | CA344044453 | CRB1 | c.3005G>C (p.Ser1002Thr) c.1886G>C (p.Ser629Thr) c.1148G>C (p.Ser383Thr) c.2669G>C (p.Ser890Thr) c.2933G>C (p.Ser978Thr) c.2129-732G>C (n.2129-732G>C) n.3006G>C n.3214G>C c.2423G>C (p.Ser808Thr) c.1448G>C (p.Ser483Thr) c.2162G>C (p.Ser721Thr) c.3140G>C (p.Ser1047Thr) n.2958G>C n.3166G>C | |
1 | g.197434868G= | CA1218068702 | CRB1 | c.3005G= (p.Ser1002=) c.1886G= (p.Ser629=) c.1148G= (p.Ser383=) c.2669G= (p.Ser890=) c.2933G= (p.Ser978=) c.2129-732G= (n.2129-732G=) n.3006G= n.3214G= c.2423G= (p.Ser808=) c.1448G= (p.Ser483=) c.2162G= (p.Ser721=) c.3140G= (p.Ser1047=) n.2958G= n.3166G= | |
1 | g.197434868G>T | CA344044449 | CRB1 | c.3005G>T (p.Ser1002Ile) c.1886G>T (p.Ser629Ile) c.1148G>T (p.Ser383Ile) c.2669G>T (p.Ser890Ile) c.2933G>T (p.Ser978Ile) c.2129-732G>T (n.2129-732G>T) n.3006G>T n.3214G>T c.2423G>T (p.Ser808Ile) c.1448G>T (p.Ser483Ile) c.2162G>T (p.Ser721Ile) c.3140G>T (p.Ser1047Ile) n.2958G>T n.3166G>T | gnomAD v4 |
1 | g.197434869C>A | CA344044455 | CRB1 | c.3006C>A (p.Ser1002Arg) c.1887C>A (p.Ser629Arg) c.1149C>A (p.Ser383Arg) c.2670C>A (p.Ser890Arg) c.2934C>A (p.Ser978Arg) c.2129-731C>A (n.2129-731C>A) n.3007C>A n.3215C>A c.2424C>A (p.Ser808Arg) c.1449C>A (p.Ser483Arg) c.2163C>A (p.Ser721Arg) c.3141C>A (p.Ser1047Arg) n.2959C>A n.3167C>A | |
1 | g.197434869C= | CA1218068703 | CRB1 | c.3006C= (p.Ser1002=) c.1887C= (p.Ser629=) c.1149C= (p.Ser383=) c.2670C= (p.Ser890=) c.2934C= (p.Ser978=) c.2129-731C= (n.2129-731C=) n.3007C= n.3215C= c.2424C= (p.Ser808=) c.1449C= (p.Ser483=) c.2163C= (p.Ser721=) c.3141C= (p.Ser1047=) n.2959C= n.3167C= | |
1 | g.197434869C>G | CA344044457 | CRB1 | c.3006C>G (p.Ser1002Arg) c.1887C>G (p.Ser629Arg) c.1149C>G (p.Ser383Arg) c.2670C>G (p.Ser890Arg) c.2934C>G (p.Ser978Arg) c.2129-731C>G (n.2129-731C>G) n.3007C>G n.3215C>G c.2424C>G (p.Ser808Arg) c.1449C>G (p.Ser483Arg) c.2163C>G (p.Ser721Arg) c.3141C>G (p.Ser1047Arg) n.2959C>G n.3167C>G | |
1 | g.197434869C>T | CA422672607 | CRB1 | c.3006C>T (p.Ser1002=) c.1887C>T (p.Ser629=) c.1149C>T (p.Ser383=) c.2670C>T (p.Ser890=) c.2934C>T (p.Ser978=) c.2129-731C>T (n.2129-731C>T) n.3007C>T n.3215C>T c.2424C>T (p.Ser808=) c.1449C>T (p.Ser483=) c.2163C>T (p.Ser721=) c.3141C>T (p.Ser1047=) n.2959C>T n.3167C>T | dbSNP |
1 | g.197434870A= | CA1218068704 | CRB1 | c.3007A= (p.Ile1003=) c.1888A= (p.Ile630=) c.1150A= (p.Ile384=) c.2671A= (p.Ile891=) c.2935A= (p.Ile979=) c.2129-730A= (n.2129-730A=) n.3008A= n.3216A= c.2425A= (p.Ile809=) c.1450A= (p.Ile484=) c.2164A= (p.Ile722=) c.3142A= (p.Ile1048=) n.2960A= n.3168A= | |
1 | g.197434870A>C | CA344044461 | CRB1 | c.3007A>C (p.Ile1003Leu) c.1888A>C (p.Ile630Leu) c.1150A>C (p.Ile384Leu) c.2671A>C (p.Ile891Leu) c.2935A>C (p.Ile979Leu) c.2129-730A>C (n.2129-730A>C) n.3008A>C n.3216A>C c.2425A>C (p.Ile809Leu) c.1450A>C (p.Ile484Leu) c.2164A>C (p.Ile722Leu) c.3142A>C (p.Ile1048Leu) n.2960A>C n.3168A>C | |
1 | g.197434870A>G | CA344044474 | CRB1 | c.3007A>G (p.Ile1003Val) c.1888A>G (p.Ile630Val) c.1150A>G (p.Ile384Val) c.2671A>G (p.Ile891Val) c.2935A>G (p.Ile979Val) c.2129-730A>G (n.2129-730A>G) n.3008A>G n.3216A>G c.2425A>G (p.Ile809Val) c.1450A>G (p.Ile484Val) c.2164A>G (p.Ile722Val) c.3142A>G (p.Ile1048Val) n.2960A>G n.3168A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.197434870A>T | CA35906753 | CRB1 | c.3007A>T (p.Ile1003Phe) c.1888A>T (p.Ile630Phe) c.1150A>T (p.Ile384Phe) c.2671A>T (p.Ile891Phe) c.2935A>T (p.Ile979Phe) c.2129-730A>T (n.2129-730A>T) n.3008A>T n.3216A>T c.2425A>T (p.Ile809Phe) c.1450A>T (p.Ile484Phe) c.2164A>T (p.Ile722Phe) c.3142A>T (p.Ile1048Phe) n.2960A>T n.3168A>T | ClinVar dbSNP gnomAD v4 |
1 | g.197434871T>A | CA344044480 | CRB1 | c.3008T>A (p.Ile1003Asn) c.1889T>A (p.Ile630Asn) c.1151T>A (p.Ile384Asn) c.2672T>A (p.Ile891Asn) c.2936T>A (p.Ile979Asn) c.2129-729T>A (n.2129-729T>A) n.3009T>A n.3217T>A c.2426T>A (p.Ile809Asn) c.1451T>A (p.Ile484Asn) c.2165T>A (p.Ile722Asn) c.3143T>A (p.Ile1048Asn) n.2961T>A n.3169T>A | |
1 | g.197434871T>C | CA344044488 | CRB1 | c.3008T>C (p.Ile1003Thr) c.1889T>C (p.Ile630Thr) c.1151T>C (p.Ile384Thr) c.2672T>C (p.Ile891Thr) c.2936T>C (p.Ile979Thr) c.2129-729T>C (n.2129-729T>C) n.3009T>C n.3217T>C c.2426T>C (p.Ile809Thr) c.1451T>C (p.Ile484Thr) c.2165T>C (p.Ile722Thr) c.3143T>C (p.Ile1048Thr) n.2961T>C n.3169T>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197434871T>G | CA344044482 | CRB1 | c.3008T>G (p.Ile1003Ser) c.1889T>G (p.Ile630Ser) c.1151T>G (p.Ile384Ser) c.2672T>G (p.Ile891Ser) c.2936T>G (p.Ile979Ser) c.2129-729T>G (n.2129-729T>G) n.3009T>G n.3217T>G c.2426T>G (p.Ile809Ser) c.1451T>G (p.Ile484Ser) c.2165T>G (p.Ile722Ser) c.3143T>G (p.Ile1048Ser) n.2961T>G n.3169T>G | |
1 | g.197434871T= | CA1218068705 | CRB1 | c.3008T= (p.Ile1003=) c.1889T= (p.Ile630=) c.1151T= (p.Ile384=) c.2672T= (p.Ile891=) c.2936T= (p.Ile979=) c.2129-729T= (n.2129-729T=) n.3009T= n.3217T= c.2426T= (p.Ile809=) c.1451T= (p.Ile484=) c.2165T= (p.Ile722=) c.3143T= (p.Ile1048=) n.2961T= n.3169T= | |
1 | g.197434872T>A | CA422672610 | CRB1 | c.3009T>A (p.Ile1003=) c.1890T>A (p.Ile630=) c.1152T>A (p.Ile384=) c.2673T>A (p.Ile891=) c.2937T>A (p.Ile979=) c.2129-728T>A (n.2129-728T>A) n.3010T>A n.3218T>A c.2427T>A (p.Ile809=) c.1452T>A (p.Ile484=) c.2166T>A (p.Ile722=) c.3144T>A (p.Ile1048=) n.2962T>A n.3170T>A | |
1 | g.197434872T>C | CA422672609 | CRB1 | c.3009T>C (p.Ile1003=) c.1890T>C (p.Ile630=) c.1152T>C (p.Ile384=) c.2673T>C (p.Ile891=) c.2937T>C (p.Ile979=) c.2129-728T>C (n.2129-728T>C) n.3010T>C n.3218T>C c.2427T>C (p.Ile809=) c.1452T>C (p.Ile484=) c.2166T>C (p.Ile722=) c.3144T>C (p.Ile1048=) n.2962T>C n.3170T>C | |
1 | g.197434872T>G | CA344044489 | CRB1 | c.3009T>G (p.Ile1003Met) c.1890T>G (p.Ile630Met) c.1152T>G (p.Ile384Met) c.2673T>G (p.Ile891Met) c.2937T>G (p.Ile979Met) c.2129-728T>G (n.2129-728T>G) n.3010T>G n.3218T>G c.2427T>G (p.Ile809Met) c.1452T>G (p.Ile484Met) c.2166T>G (p.Ile722Met) c.3144T>G (p.Ile1048Met) n.2962T>G n.3170T>G | |
1 | g.197434873C>A | CA344044491 | CRB1 | c.3010C>A (p.Gln1004Lys) c.1891C>A (p.Gln631Lys) c.1153C>A (p.Gln385Lys) c.2674C>A (p.Gln892Lys) c.2938C>A (p.Gln980Lys) c.2129-727C>A (n.2129-727C>A) n.3011C>A n.3219C>A c.2428C>A (p.Gln810Lys) c.1453C>A (p.Gln485Lys) c.2167C>A (p.Gln723Lys) c.3145C>A (p.Gln1049Lys) n.2963C>A n.3171C>A | |
1 | g.197434873C= | CA1218068706 | CRB1 | c.3010C= (p.Gln1004=) c.1891C= (p.Gln631=) c.1153C= (p.Gln385=) c.2674C= (p.Gln892=) c.2938C= (p.Gln980=) c.2129-727C= (n.2129-727C=) n.3011C= n.3219C= c.2428C= (p.Gln810=) c.1453C= (p.Gln485=) c.2167C= (p.Gln723=) c.3145C= (p.Gln1049=) n.2963C= n.3171C= | |
1 | g.197434873C>G | CA344044495 | CRB1 | c.3010C>G (p.Gln1004Glu) c.1891C>G (p.Gln631Glu) c.1153C>G (p.Gln385Glu) c.2674C>G (p.Gln892Glu) c.2938C>G (p.Gln980Glu) c.2129-727C>G (n.2129-727C>G) n.3011C>G n.3219C>G c.2428C>G (p.Gln810Glu) c.1453C>G (p.Gln485Glu) c.2167C>G (p.Gln723Glu) c.3145C>G (p.Gln1049Glu) n.2963C>G n.3171C>G | dbSNP gnomAD v4 |
1 | g.197434873C>T | CA344044500 | CRB1 | c.3010C>T (p.Gln1004Ter) c.1891C>T (p.Gln631Ter) c.1153C>T (p.Gln385Ter) c.2674C>T (p.Gln892Ter) c.2938C>T (p.Gln980Ter) c.2129-727C>T (n.2129-727C>T) n.3011C>T n.3219C>T c.2428C>T (p.Gln810Ter) c.1453C>T (p.Gln485Ter) c.2167C>T (p.Gln723Ter) c.3145C>T (p.Gln1049Ter) n.2963C>T n.3171C>T | gnomAD v4 |
1 | g.197434874A>C | CA344044507 | CRB1 | c.3011A>C (p.Gln1004Pro) c.1892A>C (p.Gln631Pro) c.1154A>C (p.Gln385Pro) c.2675A>C (p.Gln892Pro) c.2939A>C (p.Gln980Pro) c.2129-726A>C (n.2129-726A>C) n.3012A>C n.3220A>C c.2429A>C (p.Gln810Pro) c.1454A>C (p.Gln485Pro) c.2168A>C (p.Gln723Pro) c.3146A>C (p.Gln1049Pro) n.2964A>C n.3172A>C | |
1 | g.197434874A>G | CA344044509 | CRB1 | c.3011A>G (p.Gln1004Arg) c.1892A>G (p.Gln631Arg) c.1154A>G (p.Gln385Arg) c.2675A>G (p.Gln892Arg) c.2939A>G (p.Gln980Arg) c.2129-726A>G (n.2129-726A>G) n.3012A>G n.3220A>G c.2429A>G (p.Gln810Arg) c.1454A>G (p.Gln485Arg) c.2168A>G (p.Gln723Arg) c.3146A>G (p.Gln1049Arg) n.2964A>G n.3172A>G | |
1 | g.197434874A>T | CA344044515 | CRB1 | c.3011A>T (p.Gln1004Leu) c.1892A>T (p.Gln631Leu) c.1154A>T (p.Gln385Leu) c.2675A>T (p.Gln892Leu) c.2939A>T (p.Gln980Leu) c.2129-726A>T (n.2129-726A>T) n.3012A>T n.3220A>T c.2429A>T (p.Gln810Leu) c.1454A>T (p.Gln485Leu) c.2168A>T (p.Gln723Leu) c.3146A>T (p.Gln1049Leu) n.2964A>T n.3172A>T | |
1 | g.197434875A>C | CA344044525 | CRB1 | c.3012A>C (p.Gln1004His) c.1893A>C (p.Gln631His) c.1155A>C (p.Gln385His) c.2676A>C (p.Gln892His) c.2940A>C (p.Gln980His) c.2129-725A>C (n.2129-725A>C) n.3013A>C n.3221A>C c.2430A>C (p.Gln810His) c.1455A>C (p.Gln485His) c.2169A>C (p.Gln723His) c.3147A>C (p.Gln1049His) n.2965A>C n.3173A>C | |
1 | g.197434875A>G | CA422672612 | CRB1 | c.3012A>G (p.Gln1004=) c.1893A>G (p.Gln631=) c.1155A>G (p.Gln385=) c.2676A>G (p.Gln892=) c.2940A>G (p.Gln980=) c.2129-725A>G (n.2129-725A>G) n.3013A>G n.3221A>G c.2430A>G (p.Gln810=) c.1455A>G (p.Gln485=) c.2169A>G (p.Gln723=) c.3147A>G (p.Gln1049=) n.2965A>G n.3173A>G | gnomAD v4 |
1 | g.197434875A>T | CA344044529 | CRB1 | c.3012A>T (p.Gln1004His) c.1893A>T (p.Gln631His) c.1155A>T (p.Gln385His) c.2676A>T (p.Gln892His) c.2940A>T (p.Gln980His) c.2129-725A>T (n.2129-725A>T) n.3013A>T n.3221A>T c.2430A>T (p.Gln810His) c.1455A>T (p.Gln485His) c.2169A>T (p.Gln723His) c.3147A>T (p.Gln1049His) n.2965A>T n.3173A>T | |
1 | g.197434875_197434877delinsTTT | CA2740090448 | CRB1 | c.3012_3014delinsTTT (p.Gln1004_Asp1005delinsHisPhe) c.1893_1895delinsTTT (p.Gln631_Asp632delinsHisPhe) c.1155_1157delinsTTT (p.Gln385_Asp386delinsHisPhe) c.2676_2678delinsTTT (p.Gln892_Asp893delinsHisPhe) c.2940_2942delinsTTT (p.Gln980_Asp981delinsHisPhe) c.2129-725_2129-723delinsTTT (n.2129-725_2129-723delinsTTT) n.3013_3015delinsTTT n.3221_3223delinsTTT c.2430_2432delinsTTT (p.Gln810_Asp811delinsHisPhe) c.1455_1457delinsTTT (p.Gln485_Asp486delinsHisPhe) c.2169_2171delinsTTT (p.Gln723_Asp724delinsHisPhe) c.3147_3149delinsTTT (p.Gln1049_Asp1050delinsHisPhe) n.2965_2967delinsTTT n.3173_3175delinsTTT | ClinVar |
1 | g.197434876G>A | CA344044535 | CRB1 | c.3013G>A (p.Asp1005Asn) c.1894G>A (p.Asp632Asn) c.1156G>A (p.Asp386Asn) c.2677G>A (p.Asp893Asn) c.2941G>A (p.Asp981Asn) c.2129-724G>A (n.2129-724G>A) n.3014G>A n.3222G>A c.2431G>A (p.Asp811Asn) c.1456G>A (p.Asp486Asn) c.2170G>A (p.Asp724Asn) c.3148G>A (p.Asp1050Asn) n.2966G>A n.3174G>A | gnomAD v4 COSMIC COSMIC |
1 | g.197434876G>C | CA344044543 | CRB1 | c.3013G>C (p.Asp1005His) c.1894G>C (p.Asp632His) c.1156G>C (p.Asp386His) c.2677G>C (p.Asp893His) c.2941G>C (p.Asp981His) c.2129-724G>C (n.2129-724G>C) n.3014G>C n.3222G>C c.2431G>C (p.Asp811His) c.1456G>C (p.Asp486His) c.2170G>C (p.Asp724His) c.3148G>C (p.Asp1050His) n.2966G>C n.3174G>C | |
1 | g.197434876G>T | CA344044547 | CRB1 | c.3013G>T (p.Asp1005Tyr) c.1894G>T (p.Asp632Tyr) c.1156G>T (p.Asp386Tyr) c.2677G>T (p.Asp893Tyr) c.2941G>T (p.Asp981Tyr) c.2129-724G>T (n.2129-724G>T) n.3014G>T n.3222G>T c.2431G>T (p.Asp811Tyr) c.1456G>T (p.Asp486Tyr) c.2170G>T (p.Asp724Tyr) c.3148G>T (p.Asp1050Tyr) n.2966G>T n.3174G>T | COSMIC COSMIC |
1 | g.197434877A= | CA1143646962 | CRB1 | c.3014A= (p.Asp1005=) c.1895A= (p.Asp632=) c.1157A= (p.Asp386=) c.2678A= (p.Asp893=) c.2942A= (p.Asp981=) c.2129-723A= (n.2129-723A=) n.3015A= n.3223A= c.2432A= (p.Asp811=) c.1457A= (p.Asp486=) c.2171A= (p.Asp724=) c.3149A= (p.Asp1050=) n.2967A= n.3175A= | |
1 | g.197434877A>C | CA344044566 | CRB1 | c.3014A>C (p.Asp1005Ala) c.1895A>C (p.Asp632Ala) c.1157A>C (p.Asp386Ala) c.2678A>C (p.Asp893Ala) c.2942A>C (p.Asp981Ala) c.2129-723A>C (n.2129-723A>C) n.3015A>C n.3223A>C c.2432A>C (p.Asp811Ala) c.1457A>C (p.Asp486Ala) c.2171A>C (p.Asp724Ala) c.3149A>C (p.Asp1050Ala) n.2967A>C n.3175A>C | |
1 | g.197434877A>G | CA35906762 | CRB1 | c.3014A>G (p.Asp1005Gly) c.1895A>G (p.Asp632Gly) c.1157A>G (p.Asp386Gly) c.2678A>G (p.Asp893Gly) c.2942A>G (p.Asp981Gly) c.2129-723A>G (n.2129-723A>G) n.3015A>G n.3223A>G c.2432A>G (p.Asp811Gly) c.1457A>G (p.Asp486Gly) c.2171A>G (p.Asp724Gly) c.3149A>G (p.Asp1050Gly) n.2967A>G n.3175A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434877A>T | CA1312260 | CRB1 | c.3014A>T (p.Asp1005Val) c.1895A>T (p.Asp632Val) c.1157A>T (p.Asp386Val) c.2678A>T (p.Asp893Val) c.2942A>T (p.Asp981Val) c.2129-723A>T (n.2129-723A>T) n.3015A>T n.3223A>T c.2432A>T (p.Asp811Val) c.1457A>T (p.Asp486Val) c.2171A>T (p.Asp724Val) c.3149A>T (p.Asp1050Val) n.2967A>T n.3175A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434878T>A | CA344044568 | CRB1 | c.3015T>A (p.Asp1005Glu) c.1896T>A (p.Asp632Glu) c.1158T>A (p.Asp386Glu) c.2679T>A (p.Asp893Glu) c.2943T>A (p.Asp981Glu) c.2129-722T>A (n.2129-722T>A) n.3016T>A n.3224T>A c.2433T>A (p.Asp811Glu) c.1458T>A (p.Asp486Glu) c.2172T>A (p.Asp724Glu) c.3150T>A (p.Asp1050Glu) n.2968T>A n.3176T>A | |
1 | g.197434878T>C | CA422672613 | CRB1 | c.3015T>C (p.Asp1005=) c.1896T>C (p.Asp632=) c.1158T>C (p.Asp386=) c.2679T>C (p.Asp893=) c.2943T>C (p.Asp981=) c.2129-722T>C (n.2129-722T>C) n.3016T>C n.3224T>C c.2433T>C (p.Asp811=) c.1458T>C (p.Asp486=) c.2172T>C (p.Asp724=) c.3150T>C (p.Asp1050=) n.2968T>C n.3176T>C | |
1 | g.197434878T>G | CA344044569 | CRB1 | c.3015T>G (p.Asp1005Glu) c.1896T>G (p.Asp632Glu) c.1158T>G (p.Asp386Glu) c.2679T>G (p.Asp893Glu) c.2943T>G (p.Asp981Glu) c.2129-722T>G (n.2129-722T>G) n.3016T>G n.3224T>G c.2433T>G (p.Asp811Glu) c.1458T>G (p.Asp486Glu) c.2172T>G (p.Asp724Glu) c.3150T>G (p.Asp1050Glu) n.2968T>G n.3176T>G | |
1 | g.197434879T>A | CA344044572 | CRB1 | c.3016T>A (p.Ser1006Thr) c.1897T>A (p.Ser633Thr) c.1159T>A (p.Ser387Thr) c.2680T>A (p.Ser894Thr) c.2944T>A (p.Ser982Thr) c.2129-721T>A (n.2129-721T>A) n.3017T>A n.3225T>A c.2434T>A (p.Ser812Thr) c.1459T>A (p.Ser487Thr) c.2173T>A (p.Ser725Thr) c.3151T>A (p.Ser1051Thr) n.2969T>A n.3177T>A | dbSNP gnomAD v4 |
1 | g.197434879T>C | CA35906782 | CRB1 | c.3016T>C (p.Ser1006Pro) c.1897T>C (p.Ser633Pro) c.1159T>C (p.Ser387Pro) c.2680T>C (p.Ser894Pro) c.2944T>C (p.Ser982Pro) c.2129-721T>C (n.2129-721T>C) n.3017T>C n.3225T>C c.2434T>C (p.Ser812Pro) c.1459T>C (p.Ser487Pro) c.2173T>C (p.Ser725Pro) c.3151T>C (p.Ser1051Pro) n.2969T>C n.3177T>C | dbSNP |
1 | g.197434879T>G | CA344044586 | CRB1 | c.3016T>G (p.Ser1006Ala) c.1897T>G (p.Ser633Ala) c.1159T>G (p.Ser387Ala) c.2680T>G (p.Ser894Ala) c.2944T>G (p.Ser982Ala) c.2129-721T>G (n.2129-721T>G) n.3017T>G n.3225T>G c.2434T>G (p.Ser812Ala) c.1459T>G (p.Ser487Ala) c.2173T>G (p.Ser725Ala) c.3151T>G (p.Ser1051Ala) n.2969T>G n.3177T>G | |
1 | g.197434879T= | CA1218068707 | CRB1 | c.3016T= (p.Ser1006=) c.1897T= (p.Ser633=) c.1159T= (p.Ser387=) c.2680T= (p.Ser894=) c.2944T= (p.Ser982=) c.2129-721T= (n.2129-721T=) n.3017T= n.3225T= c.2434T= (p.Ser812=) c.1459T= (p.Ser487=) c.2173T= (p.Ser725=) c.3151T= (p.Ser1051=) n.2969T= n.3177T= | |
1 | g.197434880C>A | CA344044595 | CRB1 | c.3017C>A (p.Ser1006Tyr) c.1898C>A (p.Ser633Tyr) c.1160C>A (p.Ser387Tyr) c.2681C>A (p.Ser894Tyr) c.2945C>A (p.Ser982Tyr) c.2129-720C>A (n.2129-720C>A) n.3018C>A n.3226C>A c.2435C>A (p.Ser812Tyr) c.1460C>A (p.Ser487Tyr) c.2174C>A (p.Ser725Tyr) c.3152C>A (p.Ser1051Tyr) n.2970C>A n.3178C>A | ClinVar |
1 | g.197434880C= | CA1218068708 | CRB1 | c.3017C= (p.Ser1006=) c.1898C= (p.Ser633=) c.1160C= (p.Ser387=) c.2681C= (p.Ser894=) c.2945C= (p.Ser982=) c.2129-720C= (n.2129-720C=) n.3018C= n.3226C= c.2435C= (p.Ser812=) c.1460C= (p.Ser487=) c.2174C= (p.Ser725=) c.3152C= (p.Ser1051=) n.2970C= n.3178C= | |
1 | g.197434880C>G | CA344044597 | CRB1 | c.3017C>G (p.Ser1006Cys) c.1898C>G (p.Ser633Cys) c.1160C>G (p.Ser387Cys) c.2681C>G (p.Ser894Cys) c.2945C>G (p.Ser982Cys) c.2129-720C>G (n.2129-720C>G) n.3018C>G n.3226C>G c.2435C>G (p.Ser812Cys) c.1460C>G (p.Ser487Cys) c.2174C>G (p.Ser725Cys) c.3152C>G (p.Ser1051Cys) n.2970C>G n.3178C>G | |
1 | g.197434880C>T | CA10581632 | CRB1 | c.3017C>T (p.Ser1006Phe) c.1898C>T (p.Ser633Phe) c.1160C>T (p.Ser387Phe) c.2681C>T (p.Ser894Phe) c.2945C>T (p.Ser982Phe) c.2129-720C>T (n.2129-720C>T) n.3018C>T n.3226C>T c.2435C>T (p.Ser812Phe) c.1460C>T (p.Ser487Phe) c.2174C>T (p.Ser725Phe) c.3152C>T (p.Ser1051Phe) n.2970C>T n.3178C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.197434881C>A | CA422808695 | CRB1 | c.3018C>A (p.Ser1006=) c.1899C>A (p.Ser633=) c.1161C>A (p.Ser387=) c.2682C>A (p.Ser894=) c.2946C>A (p.Ser982=) c.2129-719C>A (n.2129-719C>A) n.3019C>A n.3227C>A c.2436C>A (p.Ser812=) c.1461C>A (p.Ser487=) c.2175C>A (p.Ser725=) c.3153C>A (p.Ser1051=) n.2971C>A n.3179C>A | |
1 | g.197434881C>G | CA422808697 | CRB1 | c.3018C>G (p.Ser1006=) c.1899C>G (p.Ser633=) c.1161C>G (p.Ser387=) c.2682C>G (p.Ser894=) c.2946C>G (p.Ser982=) c.2129-719C>G (n.2129-719C>G) n.3019C>G n.3227C>G c.2436C>G (p.Ser812=) c.1461C>G (p.Ser487=) c.2175C>G (p.Ser725=) c.3153C>G (p.Ser1051=) n.2971C>G n.3179C>G | |
1 | g.197434881C>T | CA422808698 | CRB1 | c.3018C>T (p.Ser1006=) c.1899C>T (p.Ser633=) c.1161C>T (p.Ser387=) c.2682C>T (p.Ser894=) c.2946C>T (p.Ser982=) c.2129-719C>T (n.2129-719C>T) n.3019C>T n.3227C>T c.2436C>T (p.Ser812=) c.1461C>T (p.Ser487=) c.2175C>T (p.Ser725=) c.3153C>T (p.Ser1051=) n.2971C>T n.3179C>T | |
1 | g.197434882A>C | CA422808699 | CRB1 | c.3019A>C (p.Arg1007=) c.1900A>C (p.Arg634=) c.1162A>C (p.Arg388=) c.2683A>C (p.Arg895=) c.2947A>C (p.Arg983=) c.2129-718A>C (n.2129-718A>C) n.3020A>C n.3228A>C c.2437A>C (p.Arg813=) c.1462A>C (p.Arg488=) c.2176A>C (p.Arg726=) c.3154A>C (p.Arg1052=) n.2972A>C n.3180A>C | gnomAD v4 |
1 | g.197434882A>G | CA344044600 | CRB1 | c.3019A>G (p.Arg1007Gly) c.1900A>G (p.Arg634Gly) c.1162A>G (p.Arg388Gly) c.2683A>G (p.Arg895Gly) c.2947A>G (p.Arg983Gly) c.2129-718A>G (n.2129-718A>G) n.3020A>G n.3228A>G c.2437A>G (p.Arg813Gly) c.1462A>G (p.Arg488Gly) c.2176A>G (p.Arg726Gly) c.3154A>G (p.Arg1052Gly) n.2972A>G n.3180A>G | |
1 | g.197434882A>T | CA344044605 | CRB1 | c.3019A>T (p.Arg1007Ter) c.1900A>T (p.Arg634Ter) c.1162A>T (p.Arg388Ter) c.2683A>T (p.Arg895Ter) c.2947A>T (p.Arg983Ter) c.2129-718A>T (n.2129-718A>T) n.3020A>T n.3228A>T c.2437A>T (p.Arg813Ter) c.1462A>T (p.Arg488Ter) c.2176A>T (p.Arg726Ter) c.3154A>T (p.Arg1052Ter) n.2972A>T n.3180A>T | |
1 | g.197434883G>A | CA344044609 | CRB1 | c.3020G>A (p.Arg1007Lys) c.1901G>A (p.Arg634Lys) c.1163G>A (p.Arg388Lys) c.2684G>A (p.Arg895Lys) c.2948G>A (p.Arg983Lys) c.2129-717G>A (n.2129-717G>A) n.3021G>A n.3229G>A c.2438G>A (p.Arg813Lys) c.1463G>A (p.Arg488Lys) c.2177G>A (p.Arg726Lys) c.3155G>A (p.Arg1052Lys) n.2973G>A n.3181G>A | COSMIC |
1 | g.197434883G>C | CA344044608 | CRB1 | c.3020G>C (p.Arg1007Thr) c.1901G>C (p.Arg634Thr) c.1163G>C (p.Arg388Thr) c.2684G>C (p.Arg895Thr) c.2948G>C (p.Arg983Thr) c.2129-717G>C (n.2129-717G>C) n.3021G>C n.3229G>C c.2438G>C (p.Arg813Thr) c.1463G>C (p.Arg488Thr) c.2177G>C (p.Arg726Thr) c.3155G>C (p.Arg1052Thr) n.2973G>C n.3181G>C | gnomAD v4 |
1 | g.197434883G= | CA1148463359 | CRB1 | c.3020G= (p.Arg1007=) c.1901G= (p.Arg634=) c.1163G= (p.Arg388=) c.2684G= (p.Arg895=) c.2948G= (p.Arg983=) c.2129-717G= (n.2129-717G=) n.3021G= n.3229G= c.2438G= (p.Arg813=) c.1463G= (p.Arg488=) c.2177G= (p.Arg726=) c.3155G= (p.Arg1052=) n.2973G= n.3181G= | |
1 | g.197434883G>T | CA1312261 | CRB1 | c.3020G>T (p.Arg1007Ile) c.1901G>T (p.Arg634Ile) c.1163G>T (p.Arg388Ile) c.2684G>T (p.Arg895Ile) c.2948G>T (p.Arg983Ile) c.2129-717G>T (n.2129-717G>T) n.3021G>T n.3229G>T c.2438G>T (p.Arg813Ile) c.1463G>T (p.Arg488Ile) c.2177G>T (p.Arg726Ile) c.3155G>T (p.Arg1052Ile) n.2973G>T n.3181G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197434884A= | CA1218068709 | CRB1 | c.3021A= (p.Arg1007=) c.1902A= (p.Arg634=) c.1164A= (p.Arg388=) c.2685A= (p.Arg895=) c.2949A= (p.Arg983=) c.2129-716A= (n.2129-716A=) n.3022A= n.3230A= c.2439A= (p.Arg813=) c.1464A= (p.Arg488=) c.2178A= (p.Arg726=) c.3156A= (p.Arg1052=) n.2974A= n.3182A= | |
1 | g.197434884A>C | CA344044610 | CRB1 | c.3021A>C (p.Arg1007Ser) c.1902A>C (p.Arg634Ser) c.1164A>C (p.Arg388Ser) c.2685A>C (p.Arg895Ser) c.2949A>C (p.Arg983Ser) c.2129-716A>C (n.2129-716A>C) n.3022A>C n.3230A>C c.2439A>C (p.Arg813Ser) c.1464A>C (p.Arg488Ser) c.2178A>C (p.Arg726Ser) c.3156A>C (p.Arg1052Ser) n.2974A>C n.3182A>C | |
1 | g.197434884A>G | CA422808704 | CRB1 | c.3021A>G (p.Arg1007=) c.1902A>G (p.Arg634=) c.1164A>G (p.Arg388=) c.2685A>G (p.Arg895=) c.2949A>G (p.Arg983=) c.2129-716A>G (n.2129-716A>G) n.3022A>G n.3230A>G c.2439A>G (p.Arg813=) c.1464A>G (p.Arg488=) c.2178A>G (p.Arg726=) c.3156A>G (p.Arg1052=) n.2974A>G n.3182A>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197434884A>T | CA344044613 | CRB1 | c.3021A>T (p.Arg1007Ser) c.1902A>T (p.Arg634Ser) c.1164A>T (p.Arg388Ser) c.2685A>T (p.Arg895Ser) c.2949A>T (p.Arg983Ser) c.2129-716A>T (n.2129-716A>T) n.3022A>T n.3230A>T c.2439A>T (p.Arg813Ser) c.1464A>T (p.Arg488Ser) c.2178A>T (p.Arg726Ser) c.3156A>T (p.Arg1052Ser) n.2974A>T n.3182A>T | |
1 | g.197434885T>A | CA344044621 | CRB1 | c.3022T>A (p.Leu1008Ile) c.1903T>A (p.Leu635Ile) c.1165T>A (p.Leu389Ile) c.2686T>A (p.Leu896Ile) c.2950T>A (p.Leu984Ile) c.2129-715T>A (n.2129-715T>A) n.3023T>A n.3231T>A c.2440T>A (p.Leu814Ile) c.1465T>A (p.Leu489Ile) c.2179T>A (p.Leu727Ile) c.3157T>A (p.Leu1053Ile) n.2975T>A n.3183T>A | |
1 | g.197434885T>C | CA422808708 | CRB1 | c.3022T>C (p.Leu1008=) c.1903T>C (p.Leu635=) c.1165T>C (p.Leu389=) c.2686T>C (p.Leu896=) c.2950T>C (p.Leu984=) c.2129-715T>C (n.2129-715T>C) n.3023T>C n.3231T>C c.2440T>C (p.Leu814=) c.1465T>C (p.Leu489=) c.2179T>C (p.Leu727=) c.3157T>C (p.Leu1053=) n.2975T>C n.3183T>C | |
1 | g.197434885T>G | CA344044626 | CRB1 | c.3022T>G (p.Leu1008Val) c.1903T>G (p.Leu635Val) c.1165T>G (p.Leu389Val) c.2686T>G (p.Leu896Val) c.2950T>G (p.Leu984Val) c.2129-715T>G (n.2129-715T>G) n.3023T>G n.3231T>G c.2440T>G (p.Leu814Val) c.1465T>G (p.Leu489Val) c.2179T>G (p.Leu727Val) c.3157T>G (p.Leu1053Val) n.2975T>G n.3183T>G | |
1 | g.197434886T>A | CA344044642 | CRB1 | c.3023T>A (p.Leu1008Ter) c.1904T>A (p.Leu635Ter) c.1166T>A (p.Leu389Ter) c.2687T>A (p.Leu896Ter) c.2951T>A (p.Leu984Ter) c.2129-714T>A (n.2129-714T>A) n.3024T>A n.3232T>A c.2441T>A (p.Leu814Ter) c.1466T>A (p.Leu489Ter) c.2180T>A (p.Leu727Ter) c.3158T>A (p.Leu1053Ter) n.2976T>A n.3184T>A | |
1 | g.197434886T>C | CA1312262 | CRB1 | c.3023T>C (p.Leu1008Ser) c.1904T>C (p.Leu635Ser) c.1166T>C (p.Leu389Ser) c.2687T>C (p.Leu896Ser) c.2951T>C (p.Leu984Ser) c.2129-714T>C (n.2129-714T>C) n.3024T>C n.3232T>C c.2441T>C (p.Leu814Ser) c.1466T>C (p.Leu489Ser) c.2180T>C (p.Leu727Ser) c.3158T>C (p.Leu1053Ser) n.2976T>C n.3184T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434886T>G | CA344044652 | CRB1 | c.3023T>G (p.Leu1008Ter) c.1904T>G (p.Leu635Ter) c.1166T>G (p.Leu389Ter) c.2687T>G (p.Leu896Ter) c.2951T>G (p.Leu984Ter) c.2129-714T>G (n.2129-714T>G) n.3024T>G n.3232T>G c.2441T>G (p.Leu814Ter) c.1466T>G (p.Leu489Ter) c.2180T>G (p.Leu727Ter) c.3158T>G (p.Leu1053Ter) n.2976T>G n.3184T>G | |
1 | g.197434886T= | CA1148010664 | CRB1 | c.3023T= (p.Leu1008=) c.1904T= (p.Leu635=) c.1166T= (p.Leu389=) c.2687T= (p.Leu896=) c.2951T= (p.Leu984=) c.2129-714T= (n.2129-714T=) n.3024T= n.3232T= c.2441T= (p.Leu814=) c.1466T= (p.Leu489=) c.2180T= (p.Leu727=) c.3158T= (p.Leu1053=) n.2976T= n.3184T= | |
1 | g.197434887A>C | CA344044657 | CRB1 | c.3024A>C (p.Leu1008Phe) c.1905A>C (p.Leu635Phe) c.1167A>C (p.Leu389Phe) c.2688A>C (p.Leu896Phe) c.2952A>C (p.Leu984Phe) c.2129-713A>C (n.2129-713A>C) n.3025A>C n.3233A>C c.2442A>C (p.Leu814Phe) c.1467A>C (p.Leu489Phe) c.2181A>C (p.Leu727Phe) c.3159A>C (p.Leu1053Phe) n.2977A>C n.3185A>C | |
1 | g.197434887A>G | CA422808710 | CRB1 | c.3024A>G (p.Leu1008=) c.1905A>G (p.Leu635=) c.1167A>G (p.Leu389=) c.2688A>G (p.Leu896=) c.2952A>G (p.Leu984=) c.2129-713A>G (n.2129-713A>G) n.3025A>G n.3233A>G c.2442A>G (p.Leu814=) c.1467A>G (p.Leu489=) c.2181A>G (p.Leu727=) c.3159A>G (p.Leu1053=) n.2977A>G n.3185A>G | |
1 | g.197434887A>T | CA344044659 | CRB1 | c.3024A>T (p.Leu1008Phe) c.1905A>T (p.Leu635Phe) c.1167A>T (p.Leu389Phe) c.2688A>T (p.Leu896Phe) c.2952A>T (p.Leu984Phe) c.2129-713A>T (n.2129-713A>T) n.3025A>T n.3233A>T c.2442A>T (p.Leu814Phe) c.1467A>T (p.Leu489Phe) c.2181A>T (p.Leu727Phe) c.3159A>T (p.Leu1053Phe) n.2977A>T n.3185A>T | |
1 | g.197434888T>A | CA344044664 | CRB1 | c.3025T>A (p.Phe1009Ile) c.1906T>A (p.Phe636Ile) c.1168T>A (p.Phe390Ile) c.2689T>A (p.Phe897Ile) c.2953T>A (p.Phe985Ile) c.2129-712T>A (n.2129-712T>A) n.3026T>A n.3234T>A c.2443T>A (p.Phe815Ile) c.1468T>A (p.Phe490Ile) c.2182T>A (p.Phe728Ile) c.3160T>A (p.Phe1054Ile) n.2978T>A n.3186T>A | |
1 | g.197434888T>C | CA344044665 | CRB1 | c.3025T>C (p.Phe1009Leu) c.1906T>C (p.Phe636Leu) c.1168T>C (p.Phe390Leu) c.2689T>C (p.Phe897Leu) c.2953T>C (p.Phe985Leu) c.2129-712T>C (n.2129-712T>C) n.3026T>C n.3234T>C c.2443T>C (p.Phe815Leu) c.1468T>C (p.Phe490Leu) c.2182T>C (p.Phe728Leu) c.3160T>C (p.Phe1054Leu) n.2978T>C n.3186T>C | |
1 | g.197434888T>G | CA344044670 | CRB1 | c.3025T>G (p.Phe1009Val) c.1906T>G (p.Phe636Val) c.1168T>G (p.Phe390Val) c.2689T>G (p.Phe897Val) c.2953T>G (p.Phe985Val) c.2129-712T>G (n.2129-712T>G) n.3026T>G n.3234T>G c.2443T>G (p.Phe815Val) c.1468T>G (p.Phe490Val) c.2182T>G (p.Phe728Val) c.3160T>G (p.Phe1054Val) n.2978T>G n.3186T>G | dbSNP |
1 | g.197434888T= | CA1218068710 | CRB1 | c.3025T= (p.Phe1009=) c.1906T= (p.Phe636=) c.1168T= (p.Phe390=) c.2689T= (p.Phe897=) c.2953T= (p.Phe985=) c.2129-712T= (n.2129-712T=) n.3026T= n.3234T= c.2443T= (p.Phe815=) c.1468T= (p.Phe490=) c.2182T= (p.Phe728=) c.3160T= (p.Phe1054=) n.2978T= n.3186T= | |
1 | g.197434889T>A | CA344044687 | CRB1 | c.3026T>A (p.Phe1009Tyr) c.1907T>A (p.Phe636Tyr) c.1169T>A (p.Phe390Tyr) c.2690T>A (p.Phe897Tyr) c.2954T>A (p.Phe985Tyr) c.2129-711T>A (n.2129-711T>A) n.3027T>A n.3235T>A c.2444T>A (p.Phe815Tyr) c.1469T>A (p.Phe490Tyr) c.2183T>A (p.Phe728Tyr) c.3161T>A (p.Phe1054Tyr) n.2979T>A n.3187T>A | |
1 | g.197434889T>C | CA344044680 | CRB1 | c.3026T>C (p.Phe1009Ser) c.1907T>C (p.Phe636Ser) c.1169T>C (p.Phe390Ser) c.2690T>C (p.Phe897Ser) c.2954T>C (p.Phe985Ser) c.2129-711T>C (n.2129-711T>C) n.3027T>C n.3235T>C c.2444T>C (p.Phe815Ser) c.1469T>C (p.Phe490Ser) c.2183T>C (p.Phe728Ser) c.3161T>C (p.Phe1054Ser) n.2979T>C n.3187T>C | |
1 | g.197434889T>G | CA344044684 | CRB1 | c.3026T>G (p.Phe1009Cys) c.1907T>G (p.Phe636Cys) c.1169T>G (p.Phe390Cys) c.2690T>G (p.Phe897Cys) c.2954T>G (p.Phe985Cys) c.2129-711T>G (n.2129-711T>G) n.3027T>G n.3235T>G c.2444T>G (p.Phe815Cys) c.1469T>G (p.Phe490Cys) c.2183T>G (p.Phe728Cys) c.3161T>G (p.Phe1054Cys) n.2979T>G n.3187T>G | |
1 | g.197434890C>A | CA344044691 | CRB1 | c.3027C>A (p.Phe1009Leu) c.1908C>A (p.Phe636Leu) c.1170C>A (p.Phe390Leu) c.2691C>A (p.Phe897Leu) c.2955C>A (p.Phe985Leu) c.2129-710C>A (n.2129-710C>A) n.3028C>A n.3236C>A c.2445C>A (p.Phe815Leu) c.1470C>A (p.Phe490Leu) c.2184C>A (p.Phe728Leu) c.3162C>A (p.Phe1054Leu) n.2980C>A n.3188C>A | gnomAD v4 |
1 | g.197434890C= | CA1218068711 | CRB1 | c.3027C= (p.Phe1009=) c.1908C= (p.Phe636=) c.1170C= (p.Phe390=) c.2691C= (p.Phe897=) c.2955C= (p.Phe985=) c.2129-710C= (n.2129-710C=) n.3028C= n.3236C= c.2445C= (p.Phe815=) c.1470C= (p.Phe490=) c.2184C= (p.Phe728=) c.3162C= (p.Phe1054=) n.2980C= n.3188C= | |
1 | g.197434890C>G | CA344044705 | CRB1 | c.3027C>G (p.Phe1009Leu) c.1908C>G (p.Phe636Leu) c.1170C>G (p.Phe390Leu) c.2691C>G (p.Phe897Leu) c.2955C>G (p.Phe985Leu) c.2129-710C>G (n.2129-710C>G) n.3028C>G n.3236C>G c.2445C>G (p.Phe815Leu) c.1470C>G (p.Phe490Leu) c.2184C>G (p.Phe728Leu) c.3162C>G (p.Phe1054Leu) n.2980C>G n.3188C>G | |
1 | g.197434890C>T | CA1312263 | CRB1 | c.3027C>T (p.Phe1009=) c.1908C>T (p.Phe636=) c.1170C>T (p.Phe390=) c.2691C>T (p.Phe897=) c.2955C>T (p.Phe985=) c.2129-710C>T (n.2129-710C>T) n.3028C>T n.3236C>T c.2445C>T (p.Phe815=) c.1470C>T (p.Phe490=) c.2184C>T (p.Phe728=) c.3162C>T (p.Phe1054=) n.2980C>T n.3188C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197434891T>A | CA344044723 | CRB1 | c.3028T>A (p.Phe1010Ile) c.1909T>A (p.Phe637Ile) c.1171T>A (p.Phe391Ile) c.2692T>A (p.Phe898Ile) c.2956T>A (p.Phe986Ile) c.2129-709T>A (n.2129-709T>A) n.3029T>A n.3237T>A c.2446T>A (p.Phe816Ile) c.1471T>A (p.Phe491Ile) c.2185T>A (p.Phe729Ile) c.3163T>A (p.Phe1055Ile) n.2981T>A n.3189T>A | |
1 | g.197434891T>C | CA344044727 | CRB1 | c.3028T>C (p.Phe1010Leu) c.1909T>C (p.Phe637Leu) c.1171T>C (p.Phe391Leu) c.2692T>C (p.Phe898Leu) c.2956T>C (p.Phe986Leu) c.2129-709T>C (n.2129-709T>C) n.3029T>C n.3237T>C c.2446T>C (p.Phe816Leu) c.1471T>C (p.Phe491Leu) c.2185T>C (p.Phe729Leu) c.3163T>C (p.Phe1055Leu) n.2981T>C n.3189T>C | |
1 | g.197434891T>G | CA344044735 | CRB1 | c.3028T>G (p.Phe1010Val) c.1909T>G (p.Phe637Val) c.1171T>G (p.Phe391Val) c.2692T>G (p.Phe898Val) c.2956T>G (p.Phe986Val) c.2129-709T>G (n.2129-709T>G) n.3029T>G n.3237T>G c.2446T>G (p.Phe816Val) c.1471T>G (p.Phe491Val) c.2185T>G (p.Phe729Val) c.3163T>G (p.Phe1055Val) n.2981T>G n.3189T>G | |
1 | g.197434892T>A | CA344044742 | CRB1 | c.3029T>A (p.Phe1010Tyr) c.1910T>A (p.Phe637Tyr) c.1172T>A (p.Phe391Tyr) c.2693T>A (p.Phe898Tyr) c.2957T>A (p.Phe986Tyr) c.2129-708T>A (n.2129-708T>A) n.3030T>A n.3238T>A c.2447T>A (p.Phe816Tyr) c.1472T>A (p.Phe491Tyr) c.2186T>A (p.Phe729Tyr) c.3164T>A (p.Phe1055Tyr) n.2982T>A n.3190T>A | |
1 | g.197434892T>C | CA344044743 | CRB1 | c.3029T>C (p.Phe1010Ser) c.1910T>C (p.Phe637Ser) c.1172T>C (p.Phe391Ser) c.2693T>C (p.Phe898Ser) c.2957T>C (p.Phe986Ser) c.2129-708T>C (n.2129-708T>C) n.3030T>C n.3238T>C c.2447T>C (p.Phe816Ser) c.1472T>C (p.Phe491Ser) c.2186T>C (p.Phe729Ser) c.3164T>C (p.Phe1055Ser) n.2982T>C n.3190T>C | |
1 | g.197434892T>G | CA344044744 | CRB1 | c.3029T>G (p.Phe1010Cys) c.1910T>G (p.Phe637Cys) c.1172T>G (p.Phe391Cys) c.2693T>G (p.Phe898Cys) c.2957T>G (p.Phe986Cys) c.2129-708T>G (n.2129-708T>G) n.3030T>G n.3238T>G c.2447T>G (p.Phe816Cys) c.1472T>G (p.Phe491Cys) c.2186T>G (p.Phe729Cys) c.3164T>G (p.Phe1055Cys) n.2982T>G n.3190T>G | |
1 | g.197434893T>A | CA344044747 | CRB1 | c.3030T>A (p.Phe1010Leu) c.1911T>A (p.Phe637Leu) c.1173T>A (p.Phe391Leu) c.2694T>A (p.Phe898Leu) c.2958T>A (p.Phe986Leu) c.2129-707T>A (n.2129-707T>A) n.3031T>A n.3239T>A c.2448T>A (p.Phe816Leu) c.1473T>A (p.Phe491Leu) c.2187T>A (p.Phe729Leu) c.3165T>A (p.Phe1055Leu) n.2983T>A n.3191T>A | |
1 | g.197434893T>C | CA422808713 | CRB1 | c.3030T>C (p.Phe1010=) c.1911T>C (p.Phe637=) c.1173T>C (p.Phe391=) c.2694T>C (p.Phe898=) c.2958T>C (p.Phe986=) c.2129-707T>C (n.2129-707T>C) n.3031T>C n.3239T>C c.2448T>C (p.Phe816=) c.1473T>C (p.Phe491=) c.2187T>C (p.Phe729=) c.3165T>C (p.Phe1055=) n.2983T>C n.3191T>C | |
1 | g.197434893T>G | CA344044749 | CRB1 | c.3030T>G (p.Phe1010Leu) c.1911T>G (p.Phe637Leu) c.1173T>G (p.Phe391Leu) c.2694T>G (p.Phe898Leu) c.2958T>G (p.Phe986Leu) c.2129-707T>G (n.2129-707T>G) n.3031T>G n.3239T>G c.2448T>G (p.Phe816Leu) c.1473T>G (p.Phe491Leu) c.2187T>G (p.Phe729Leu) c.3165T>G (p.Phe1055Leu) n.2983T>G n.3191T>G | |
1 | g.197434894C>A | CA344044761 | CRB1 | c.3031C>A (p.Gln1011Lys) c.1912C>A (p.Gln638Lys) c.1174C>A (p.Gln392Lys) c.2695C>A (p.Gln899Lys) c.2959C>A (p.Gln987Lys) c.2129-706C>A (n.2129-706C>A) n.3032C>A n.3240C>A c.2449C>A (p.Gln817Lys) c.1474C>A (p.Gln492Lys) c.2188C>A (p.Gln730Lys) c.3166C>A (p.Gln1056Lys) n.2984C>A n.3192C>A | |
1 | g.197434894C>G | CA344044756 | CRB1 | c.3031C>G (p.Gln1011Glu) c.1912C>G (p.Gln638Glu) c.1174C>G (p.Gln392Glu) c.2695C>G (p.Gln899Glu) c.2959C>G (p.Gln987Glu) c.2129-706C>G (n.2129-706C>G) n.3032C>G n.3240C>G c.2449C>G (p.Gln817Glu) c.1474C>G (p.Gln492Glu) c.2188C>G (p.Gln730Glu) c.3166C>G (p.Gln1056Glu) n.2984C>G n.3192C>G | |
1 | g.197434894C>T | CA344044753 | CRB1 | c.3031C>T (p.Gln1011Ter) c.1912C>T (p.Gln638Ter) c.1174C>T (p.Gln392Ter) c.2695C>T (p.Gln899Ter) c.2959C>T (p.Gln987Ter) c.2129-706C>T (n.2129-706C>T) n.3032C>T n.3240C>T c.2449C>T (p.Gln817Ter) c.1474C>T (p.Gln492Ter) c.2188C>T (p.Gln730Ter) c.3166C>T (p.Gln1056Ter) n.2984C>T n.3192C>T | |
1 | g.197434895A>C | CA344044762 | CRB1 | c.3032A>C (p.Gln1011Pro) c.1913A>C (p.Gln638Pro) c.1175A>C (p.Gln392Pro) c.2696A>C (p.Gln899Pro) c.2960A>C (p.Gln987Pro) c.2129-705A>C (n.2129-705A>C) n.3033A>C n.3241A>C c.2450A>C (p.Gln817Pro) c.1475A>C (p.Gln492Pro) c.2189A>C (p.Gln730Pro) c.3167A>C (p.Gln1056Pro) n.2985A>C n.3193A>C | |
1 | g.197434895A>G | CA344044767 | CRB1 | c.3032A>G (p.Gln1011Arg) c.1913A>G (p.Gln638Arg) c.1175A>G (p.Gln392Arg) c.2696A>G (p.Gln899Arg) c.2960A>G (p.Gln987Arg) c.2129-705A>G (n.2129-705A>G) n.3033A>G n.3241A>G c.2450A>G (p.Gln817Arg) c.1475A>G (p.Gln492Arg) c.2189A>G (p.Gln730Arg) c.3167A>G (p.Gln1056Arg) n.2985A>G n.3193A>G | |
1 | g.197434895A>T | CA344044764 | CRB1 | c.3032A>T (p.Gln1011Leu) c.1913A>T (p.Gln638Leu) c.1175A>T (p.Gln392Leu) c.2696A>T (p.Gln899Leu) c.2960A>T (p.Gln987Leu) c.2129-705A>T (n.2129-705A>T) n.3033A>T n.3241A>T c.2450A>T (p.Gln817Leu) c.1475A>T (p.Gln492Leu) c.2189A>T (p.Gln730Leu) c.3167A>T (p.Gln1056Leu) n.2985A>T n.3193A>T | |
1 | g.197434896A>C | CA344044772 | CRB1 | c.3033A>C (p.Gln1011His) c.1914A>C (p.Gln638His) c.1176A>C (p.Gln392His) c.2697A>C (p.Gln899His) c.2961A>C (p.Gln987His) c.2129-704A>C (n.2129-704A>C) n.3034A>C n.3242A>C c.2451A>C (p.Gln817His) c.1476A>C (p.Gln492His) c.2190A>C (p.Gln730His) c.3168A>C (p.Gln1056His) n.2986A>C n.3194A>C | |
1 | g.197434896A>G | CA422808716 | CRB1 | c.3033A>G (p.Gln1011=) c.1914A>G (p.Gln638=) c.1176A>G (p.Gln392=) c.2697A>G (p.Gln899=) c.2961A>G (p.Gln987=) c.2129-704A>G (n.2129-704A>G) n.3034A>G n.3242A>G c.2451A>G (p.Gln817=) c.1476A>G (p.Gln492=) c.2190A>G (p.Gln730=) c.3168A>G (p.Gln1056=) n.2986A>G n.3194A>G | gnomAD v4 |
1 | g.197434896A>T | CA344044778 | CRB1 | c.3033A>T (p.Gln1011His) c.1914A>T (p.Gln638His) c.1176A>T (p.Gln392His) c.2697A>T (p.Gln899His) c.2961A>T (p.Gln987His) c.2129-704A>T (n.2129-704A>T) n.3034A>T n.3242A>T c.2451A>T (p.Gln817His) c.1476A>T (p.Gln492His) c.2190A>T (p.Gln730His) c.3168A>T (p.Gln1056His) n.2986A>T n.3194A>T | |
1 | g.197434897T>A | CA344044783 | CRB1 | c.3034T>A (p.Leu1012Met) c.1915T>A (p.Leu639Met) c.1177T>A (p.Leu393Met) c.2698T>A (p.Leu900Met) c.2962T>A (p.Leu988Met) c.2129-703T>A (n.2129-703T>A) n.3035T>A n.3243T>A c.2452T>A (p.Leu818Met) c.1477T>A (p.Leu493Met) c.2191T>A (p.Leu731Met) c.3169T>A (p.Leu1057Met) n.2987T>A n.3195T>A | |
1 | g.197434897T>C | CA422808717 | CRB1 | c.3034T>C (p.Leu1012=) c.1915T>C (p.Leu639=) c.1177T>C (p.Leu393=) c.2698T>C (p.Leu900=) c.2962T>C (p.Leu988=) c.2129-703T>C (n.2129-703T>C) n.3035T>C n.3243T>C c.2452T>C (p.Leu818=) c.1477T>C (p.Leu493=) c.2191T>C (p.Leu731=) c.3169T>C (p.Leu1057=) n.2987T>C n.3195T>C | |
1 | g.197434897T>G | CA344044786 | CRB1 | c.3034T>G (p.Leu1012Val) c.1915T>G (p.Leu639Val) c.1177T>G (p.Leu393Val) c.2698T>G (p.Leu900Val) c.2962T>G (p.Leu988Val) c.2129-703T>G (n.2129-703T>G) n.3035T>G n.3243T>G c.2452T>G (p.Leu818Val) c.1477T>G (p.Leu493Val) c.2191T>G (p.Leu731Val) c.3169T>G (p.Leu1057Val) n.2987T>G n.3195T>G | |
1 | g.197434898T>A | CA344044787 | CRB1 | c.3035T>A (p.Leu1012Ter) c.1916T>A (p.Leu639Ter) c.1178T>A (p.Leu393Ter) c.2699T>A (p.Leu900Ter) c.2963T>A (p.Leu988Ter) c.2129-702T>A (n.2129-702T>A) n.3036T>A n.3244T>A c.2453T>A (p.Leu818Ter) c.1478T>A (p.Leu493Ter) c.2192T>A (p.Leu731Ter) c.3170T>A (p.Leu1057Ter) n.2988T>A n.3196T>A | |
1 | g.197434898T>C | CA344044788 | CRB1 | c.3035T>C (p.Leu1012Ser) c.1916T>C (p.Leu639Ser) c.1178T>C (p.Leu393Ser) c.2699T>C (p.Leu900Ser) c.2963T>C (p.Leu988Ser) c.2129-702T>C (n.2129-702T>C) n.3036T>C n.3244T>C c.2453T>C (p.Leu818Ser) c.1478T>C (p.Leu493Ser) c.2192T>C (p.Leu731Ser) c.3170T>C (p.Leu1057Ser) n.2988T>C n.3196T>C | |
1 | g.197434898T>G | CA344044789 | CRB1 | c.3035T>G (p.Leu1012Trp) c.1916T>G (p.Leu639Trp) c.1178T>G (p.Leu393Trp) c.2699T>G (p.Leu900Trp) c.2963T>G (p.Leu988Trp) c.2129-702T>G (n.2129-702T>G) n.3036T>G n.3244T>G c.2453T>G (p.Leu818Trp) c.1478T>G (p.Leu493Trp) c.2192T>G (p.Leu731Trp) c.3170T>G (p.Leu1057Trp) n.2988T>G n.3196T>G | |
1 | g.197434899G>A | CA422808718 | CRB1 | c.3036G>A (p.Leu1012=) c.1917G>A (p.Leu639=) c.1179G>A (p.Leu393=) c.2700G>A (p.Leu900=) c.2964G>A (p.Leu988=) c.2129-701G>A (n.2129-701G>A) n.3037G>A n.3245G>A c.2454G>A (p.Leu818=) c.1479G>A (p.Leu493=) c.2193G>A (p.Leu731=) c.3171G>A (p.Leu1057=) n.2989G>A n.3197G>A | COSMIC COSMIC |
1 | g.197434899G>C | CA344044791 | CRB1 | c.3036G>C (p.Leu1012Phe) c.1917G>C (p.Leu639Phe) c.1179G>C (p.Leu393Phe) c.2700G>C (p.Leu900Phe) c.2964G>C (p.Leu988Phe) c.2129-701G>C (n.2129-701G>C) n.3037G>C n.3245G>C c.2454G>C (p.Leu818Phe) c.1479G>C (p.Leu493Phe) c.2193G>C (p.Leu731Phe) c.3171G>C (p.Leu1057Phe) n.2989G>C n.3197G>C | |
1 | g.197434899G>T | CA344044793 | CRB1 | c.3036G>T (p.Leu1012Phe) c.1917G>T (p.Leu639Phe) c.1179G>T (p.Leu393Phe) c.2700G>T (p.Leu900Phe) c.2964G>T (p.Leu988Phe) c.2129-701G>T (n.2129-701G>T) n.3037G>T n.3245G>T c.2454G>T (p.Leu818Phe) c.1479G>T (p.Leu493Phe) c.2193G>T (p.Leu731Phe) c.3171G>T (p.Leu1057Phe) n.2989G>T n.3197G>T | |
1 | g.197434900C>A | CA344044800 | CRB1 | c.3037C>A (p.Gln1013Lys) c.1918C>A (p.Gln640Lys) c.1180C>A (p.Gln394Lys) c.2701C>A (p.Gln901Lys) c.2965C>A (p.Gln989Lys) c.2129-700C>A (n.2129-700C>A) n.3038C>A n.3246C>A c.2455C>A (p.Gln819Lys) c.1480C>A (p.Gln494Lys) c.2194C>A (p.Gln732Lys) c.3172C>A (p.Gln1058Lys) n.2990C>A n.3198C>A | |
1 | g.197434900C= | CA1141934419 | CRB1 | c.3037C= (p.Gln1013=) c.1918C= (p.Gln640=) c.1180C= (p.Gln394=) c.2701C= (p.Gln901=) c.2965C= (p.Gln989=) c.2129-700C= (n.2129-700C=) n.3038C= n.3246C= c.2455C= (p.Gln819=) c.1480C= (p.Gln494=) c.2194C= (p.Gln732=) c.3172C= (p.Gln1058=) n.2990C= n.3198C= | |
1 | g.197434900C>G | CA344044809 | CRB1 | c.3037C>G (p.Gln1013Glu) c.1918C>G (p.Gln640Glu) c.1180C>G (p.Gln394Glu) c.2701C>G (p.Gln901Glu) c.2965C>G (p.Gln989Glu) c.2129-700C>G (n.2129-700C>G) n.3038C>G n.3246C>G c.2455C>G (p.Gln819Glu) c.1480C>G (p.Gln494Glu) c.2194C>G (p.Gln732Glu) c.3172C>G (p.Gln1058Glu) n.2990C>G n.3198C>G | |
1 | g.197434900C>T | CA1312264 | CRB1 | c.3037C>T (p.Gln1013Ter) c.1918C>T (p.Gln640Ter) c.1180C>T (p.Gln394Ter) c.2701C>T (p.Gln901Ter) c.2965C>T (p.Gln989Ter) c.2129-700C>T (n.2129-700C>T) n.3038C>T n.3246C>T c.2455C>T (p.Gln819Ter) c.1480C>T (p.Gln494Ter) c.2194C>T (p.Gln732Ter) c.3172C>T (p.Gln1058Ter) n.2990C>T n.3198C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197434901A= | CA1218068712 | CRB1 | c.3038A= (p.Gln1013=) c.1919A= (p.Gln640=) c.1181A= (p.Gln394=) c.2702A= (p.Gln901=) c.2966A= (p.Gln989=) c.2129-699A= (n.2129-699A=) n.3039A= n.3247A= c.2456A= (p.Gln819=) c.1481A= (p.Gln494=) c.2195A= (p.Gln732=) c.3173A= (p.Gln1058=) n.2991A= n.3199A= | |
1 | g.197434901A>C | CA10605363 | CRB1 | c.3038A>C (p.Gln1013Pro) c.1919A>C (p.Gln640Pro) c.1181A>C (p.Gln394Pro) c.2702A>C (p.Gln901Pro) c.2966A>C (p.Gln989Pro) c.2129-699A>C (n.2129-699A>C) n.3039A>C n.3247A>C c.2456A>C (p.Gln819Pro) c.1481A>C (p.Gln494Pro) c.2195A>C (p.Gln732Pro) c.3173A>C (p.Gln1058Pro) n.2991A>C n.3199A>C | ClinVar dbSNP gnomAD v4 |
1 | g.197434901A>G | CA344044811 | CRB1 | c.3038A>G (p.Gln1013Arg) c.1919A>G (p.Gln640Arg) c.1181A>G (p.Gln394Arg) c.2702A>G (p.Gln901Arg) c.2966A>G (p.Gln989Arg) c.2129-699A>G (n.2129-699A>G) n.3039A>G n.3247A>G c.2456A>G (p.Gln819Arg) c.1481A>G (p.Gln494Arg) c.2195A>G (p.Gln732Arg) c.3173A>G (p.Gln1058Arg) n.2991A>G n.3199A>G | |
1 | g.197434901A>T | CA344044815 | CRB1 | c.3038A>T (p.Gln1013Leu) c.1919A>T (p.Gln640Leu) c.1181A>T (p.Gln394Leu) c.2702A>T (p.Gln901Leu) c.2966A>T (p.Gln989Leu) c.2129-699A>T (n.2129-699A>T) n.3039A>T n.3247A>T c.2456A>T (p.Gln819Leu) c.1481A>T (p.Gln494Leu) c.2195A>T (p.Gln732Leu) c.3173A>T (p.Gln1058Leu) n.2991A>T n.3199A>T | |
1 | g.197434902A>C | CA344044833 | CRB1 | c.3039A>C (p.Gln1013His) c.1920A>C (p.Gln640His) c.1182A>C (p.Gln394His) c.2703A>C (p.Gln901His) c.2967A>C (p.Gln989His) c.2129-698A>C (n.2129-698A>C) n.3040A>C n.3248A>C c.2457A>C (p.Gln819His) c.1482A>C (p.Gln494His) c.2196A>C (p.Gln732His) c.3174A>C (p.Gln1058His) n.2992A>C n.3200A>C | |
1 | g.197434902A>G | CA422808722 | CRB1 | c.3039A>G (p.Gln1013=) c.1920A>G (p.Gln640=) c.1182A>G (p.Gln394=) c.2703A>G (p.Gln901=) c.2967A>G (p.Gln989=) c.2129-698A>G (n.2129-698A>G) n.3040A>G n.3248A>G c.2457A>G (p.Gln819=) c.1482A>G (p.Gln494=) c.2196A>G (p.Gln732=) c.3174A>G (p.Gln1058=) n.2992A>G n.3200A>G | |
1 | g.197434902A>T | CA344044834 | CRB1 | c.3039A>T (p.Gln1013His) c.1920A>T (p.Gln640His) c.1182A>T (p.Gln394His) c.2703A>T (p.Gln901His) c.2967A>T (p.Gln989His) c.2129-698A>T (n.2129-698A>T) n.3040A>T n.3248A>T c.2457A>T (p.Gln819His) c.1482A>T (p.Gln494His) c.2196A>T (p.Gln732His) c.3174A>T (p.Gln1058His) n.2992A>T n.3200A>T | |
1 | g.197434903A>C | CA344044835 | CRB1 | c.3040A>C (p.Ser1014Arg) c.1921A>C (p.Ser641Arg) c.1183A>C (p.Ser395Arg) c.2704A>C (p.Ser902Arg) c.2968A>C (p.Ser990Arg) c.2129-697A>C (n.2129-697A>C) n.3041A>C n.3249A>C c.2458A>C (p.Ser820Arg) c.1483A>C (p.Ser495Arg) c.2197A>C (p.Ser733Arg) c.3175A>C (p.Ser1059Arg) n.2993A>C n.3201A>C | |
1 | g.197434903A>G | CA344044836 | CRB1 | c.3040A>G (p.Ser1014Gly) c.1921A>G (p.Ser641Gly) c.1183A>G (p.Ser395Gly) c.2704A>G (p.Ser902Gly) c.2968A>G (p.Ser990Gly) c.2129-697A>G (n.2129-697A>G) n.3041A>G n.3249A>G c.2458A>G (p.Ser820Gly) c.1483A>G (p.Ser495Gly) c.2197A>G (p.Ser733Gly) c.3175A>G (p.Ser1059Gly) n.2993A>G n.3201A>G | |
1 | g.197434903A>T | CA344044838 | CRB1 | c.3040A>T (p.Ser1014Cys) c.1921A>T (p.Ser641Cys) c.1183A>T (p.Ser395Cys) c.2704A>T (p.Ser902Cys) c.2968A>T (p.Ser990Cys) c.2129-697A>T (n.2129-697A>T) n.3041A>T n.3249A>T c.2458A>T (p.Ser820Cys) c.1483A>T (p.Ser495Cys) c.2197A>T (p.Ser733Cys) c.3175A>T (p.Ser1059Cys) n.2993A>T n.3201A>T | |
1 | g.197434904G>A | CA1312265 | CRB1 | c.3041G>A (p.Ser1014Asn) c.1922G>A (p.Ser641Asn) c.1184G>A (p.Ser395Asn) c.2705G>A (p.Ser902Asn) c.2969G>A (p.Ser990Asn) c.2129-696G>A (n.2129-696G>A) n.3042G>A n.3250G>A c.2459G>A (p.Ser820Asn) c.1484G>A (p.Ser495Asn) c.2198G>A (p.Ser733Asn) c.3176G>A (p.Ser1059Asn) n.2994G>A n.3202G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434904G>C | CA344044844 | CRB1 | c.3041G>C (p.Ser1014Thr) c.1922G>C (p.Ser641Thr) c.1184G>C (p.Ser395Thr) c.2705G>C (p.Ser902Thr) c.2969G>C (p.Ser990Thr) c.2129-696G>C (n.2129-696G>C) n.3042G>C n.3250G>C c.2459G>C (p.Ser820Thr) c.1484G>C (p.Ser495Thr) c.2198G>C (p.Ser733Thr) c.3176G>C (p.Ser1059Thr) n.2994G>C n.3202G>C | |
1 | g.197434904G= | CA1145283285 | CRB1 | c.3041G= (p.Ser1014=) c.1922G= (p.Ser641=) c.1184G= (p.Ser395=) c.2705G= (p.Ser902=) c.2969G= (p.Ser990=) c.2129-696G= (n.2129-696G=) n.3042G= n.3250G= c.2459G= (p.Ser820=) c.1484G= (p.Ser495=) c.2198G= (p.Ser733=) c.3176G= (p.Ser1059=) n.2994G= n.3202G= | |
1 | g.197434904G>T | CA344044847 | CRB1 | c.3041G>T (p.Ser1014Ile) c.1922G>T (p.Ser641Ile) c.1184G>T (p.Ser395Ile) c.2705G>T (p.Ser902Ile) c.2969G>T (p.Ser990Ile) c.2129-696G>T (n.2129-696G>T) n.3042G>T n.3250G>T c.2459G>T (p.Ser820Ile) c.1484G>T (p.Ser495Ile) c.2198G>T (p.Ser733Ile) c.3176G>T (p.Ser1059Ile) n.2994G>T n.3202G>T | |
1 | g.197434905T>A | CA344044859 | CRB1 | c.3042T>A (p.Ser1014Arg) c.1923T>A (p.Ser641Arg) c.1185T>A (p.Ser395Arg) c.2706T>A (p.Ser902Arg) c.2970T>A (p.Ser990Arg) c.2129-695T>A (n.2129-695T>A) n.3043T>A n.3251T>A c.2460T>A (p.Ser820Arg) c.1485T>A (p.Ser495Arg) c.2199T>A (p.Ser733Arg) c.3177T>A (p.Ser1059Arg) n.2995T>A n.3203T>A | |
1 | g.197434905T>C | CA1312266 | CRB1 | c.3042T>C (p.Ser1014=) c.1923T>C (p.Ser641=) c.1185T>C (p.Ser395=) c.2706T>C (p.Ser902=) c.2970T>C (p.Ser990=) c.2129-695T>C (n.2129-695T>C) n.3043T>C n.3251T>C c.2460T>C (p.Ser820=) c.1485T>C (p.Ser495=) c.2199T>C (p.Ser733=) c.3177T>C (p.Ser1059=) n.2995T>C n.3203T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434905T>G | CA344044868 | CRB1 | c.3042T>G (p.Ser1014Arg) c.1923T>G (p.Ser641Arg) c.1185T>G (p.Ser395Arg) c.2706T>G (p.Ser902Arg) c.2970T>G (p.Ser990Arg) c.2129-695T>G (n.2129-695T>G) n.3043T>G n.3251T>G c.2460T>G (p.Ser820Arg) c.1485T>G (p.Ser495Arg) c.2199T>G (p.Ser733Arg) c.3177T>G (p.Ser1059Arg) n.2995T>G n.3203T>G | |
1 | g.197434905T= | CA1143993964 | CRB1 | c.3042T= (p.Ser1014=) c.1923T= (p.Ser641=) c.1185T= (p.Ser395=) c.2706T= (p.Ser902=) c.2970T= (p.Ser990=) c.2129-695T= (n.2129-695T=) n.3043T= n.3251T= c.2460T= (p.Ser820=) c.1485T= (p.Ser495=) c.2199T= (p.Ser733=) c.3177T= (p.Ser1059=) n.2995T= n.3203T= | |
1 | g.197434906G>A | CA344044882 | CRB1 | c.3043G>A (p.Gly1015Ser) c.1924G>A (p.Gly642Ser) c.1186G>A (p.Gly396Ser) c.2707G>A (p.Gly903Ser) c.2971G>A (p.Gly991Ser) c.2129-694G>A (n.2129-694G>A) n.3044G>A n.3252G>A c.2461G>A (p.Gly821Ser) c.1486G>A (p.Gly496Ser) c.2200G>A (p.Gly734Ser) c.3178G>A (p.Gly1060Ser) n.2996G>A n.3204G>A | |
1 | g.197434906G>C | CA344044881 | CRB1 | c.3043G>C (p.Gly1015Arg) c.1924G>C (p.Gly642Arg) c.1186G>C (p.Gly396Arg) c.2707G>C (p.Gly903Arg) c.2971G>C (p.Gly991Arg) c.2129-694G>C (n.2129-694G>C) n.3044G>C n.3252G>C c.2461G>C (p.Gly821Arg) c.1486G>C (p.Gly496Arg) c.2200G>C (p.Gly734Arg) c.3178G>C (p.Gly1060Arg) n.2996G>C n.3204G>C | |
1 | g.197434906G>T | CA344044877 | CRB1 | c.3043G>T (p.Gly1015Cys) c.1924G>T (p.Gly642Cys) c.1186G>T (p.Gly396Cys) c.2707G>T (p.Gly903Cys) c.2971G>T (p.Gly991Cys) c.2129-694G>T (n.2129-694G>T) n.3044G>T n.3252G>T c.2461G>T (p.Gly821Cys) c.1486G>T (p.Gly496Cys) c.2200G>T (p.Gly734Cys) c.3178G>T (p.Gly1060Cys) n.2996G>T n.3204G>T | |
1 | g.197434907G>A | CA344044883 | CRB1 | c.3044G>A (p.Gly1015Asp) c.1925G>A (p.Gly642Asp) c.1187G>A (p.Gly396Asp) c.2708G>A (p.Gly903Asp) c.2972G>A (p.Gly991Asp) c.2129-693G>A (n.2129-693G>A) n.3045G>A n.3253G>A c.2462G>A (p.Gly821Asp) c.1487G>A (p.Gly496Asp) c.2201G>A (p.Gly734Asp) c.3179G>A (p.Gly1060Asp) n.2997G>A n.3205G>A | dbSNP gnomAD v4 |
1 | g.197434907G>C | CA344044885 | CRB1 | c.3044G>C (p.Gly1015Ala) c.1925G>C (p.Gly642Ala) c.1187G>C (p.Gly396Ala) c.2708G>C (p.Gly903Ala) c.2972G>C (p.Gly991Ala) c.2129-693G>C (n.2129-693G>C) n.3045G>C n.3253G>C c.2462G>C (p.Gly821Ala) c.1487G>C (p.Gly496Ala) c.2201G>C (p.Gly734Ala) c.3179G>C (p.Gly1060Ala) n.2997G>C n.3205G>C | |
1 | g.197434907G= | CA1218068713 | CRB1 | c.3044G= (p.Gly1015=) c.1925G= (p.Gly642=) c.1187G= (p.Gly396=) c.2708G= (p.Gly903=) c.2972G= (p.Gly991=) c.2129-693G= (n.2129-693G=) n.3045G= n.3253G= c.2462G= (p.Gly821=) c.1487G= (p.Gly496=) c.2201G= (p.Gly734=) c.3179G= (p.Gly1060=) n.2997G= n.3205G= | |
1 | g.197434907G>T | CA344044888 | CRB1 | c.3044G>T (p.Gly1015Val) c.1925G>T (p.Gly642Val) c.1187G>T (p.Gly396Val) c.2708G>T (p.Gly903Val) c.2972G>T (p.Gly991Val) c.2129-693G>T (n.2129-693G>T) n.3045G>T n.3253G>T c.2462G>T (p.Gly821Val) c.1487G>T (p.Gly496Val) c.2201G>T (p.Gly734Val) c.3179G>T (p.Gly1060Val) n.2997G>T n.3205G>T | |
1 | g.197434908C>A | CA422808726 | CRB1 | c.3045C>A (p.Gly1015=) c.1926C>A (p.Gly642=) c.1188C>A (p.Gly396=) c.2709C>A (p.Gly903=) c.2973C>A (p.Gly991=) c.2129-692C>A (n.2129-692C>A) n.3046C>A n.3254C>A c.2463C>A (p.Gly821=) c.1488C>A (p.Gly496=) c.2202C>A (p.Gly734=) c.3180C>A (p.Gly1060=) n.2998C>A n.3206C>A | |
1 | g.197434908C= | CA1218068714 | CRB1 | c.3045C= (p.Gly1015=) c.1926C= (p.Gly642=) c.1188C= (p.Gly396=) c.2709C= (p.Gly903=) c.2973C= (p.Gly991=) c.2129-692C= (n.2129-692C=) n.3046C= n.3254C= c.2463C= (p.Gly821=) c.1488C= (p.Gly496=) c.2202C= (p.Gly734=) c.3180C= (p.Gly1060=) n.2998C= n.3206C= | |
1 | g.197434908C>G | CA422808727 | CRB1 | c.3045C>G (p.Gly1015=) c.1926C>G (p.Gly642=) c.1188C>G (p.Gly396=) c.2709C>G (p.Gly903=) c.2973C>G (p.Gly991=) c.2129-692C>G (n.2129-692C>G) n.3046C>G n.3254C>G c.2463C>G (p.Gly821=) c.1488C>G (p.Gly496=) c.2202C>G (p.Gly734=) c.3180C>G (p.Gly1060=) n.2998C>G n.3206C>G | |
1 | g.197434908C>T | CA35906883 | CRB1 | c.3045C>T (p.Gly1015=) c.1926C>T (p.Gly642=) c.1188C>T (p.Gly396=) c.2709C>T (p.Gly903=) c.2973C>T (p.Gly991=) c.2129-692C>T (n.2129-692C>T) n.3046C>T n.3254C>T c.2463C>T (p.Gly821=) c.1488C>T (p.Gly496=) c.2202C>T (p.Gly734=) c.3180C>T (p.Gly1060=) n.2998C>T n.3206C>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197434909A>C | CA344044891 | CRB1 | c.3046A>C (p.Asn1016His) c.1927A>C (p.Asn643His) c.1189A>C (p.Asn397His) c.2710A>C (p.Asn904His) c.2974A>C (p.Asn992His) c.2129-691A>C (n.2129-691A>C) n.3047A>C n.3255A>C c.2464A>C (p.Asn822His) c.1489A>C (p.Asn497His) c.2203A>C (p.Asn735His) c.3181A>C (p.Asn1061His) n.2999A>C n.3207A>C | |
1 | g.197434909A>G | CA344044893 | CRB1 | c.3046A>G (p.Asn1016Asp) c.1927A>G (p.Asn643Asp) c.1189A>G (p.Asn397Asp) c.2710A>G (p.Asn904Asp) c.2974A>G (p.Asn992Asp) c.2129-691A>G (n.2129-691A>G) n.3047A>G n.3255A>G c.2464A>G (p.Asn822Asp) c.1489A>G (p.Asn497Asp) c.2203A>G (p.Asn735Asp) c.3181A>G (p.Asn1061Asp) n.2999A>G n.3207A>G | |
1 | g.197434909A>T | CA344044902 | CRB1 | c.3046A>T (p.Asn1016Tyr) c.1927A>T (p.Asn643Tyr) c.1189A>T (p.Asn397Tyr) c.2710A>T (p.Asn904Tyr) c.2974A>T (p.Asn992Tyr) c.2129-691A>T (n.2129-691A>T) n.3047A>T n.3255A>T c.2464A>T (p.Asn822Tyr) c.1489A>T (p.Asn497Tyr) c.2203A>T (p.Asn735Tyr) c.3181A>T (p.Asn1061Tyr) n.2999A>T n.3207A>T | |
1 | g.197434910A>C | CA344044910 | CRB1 | c.3047A>C (p.Asn1016Thr) c.1928A>C (p.Asn643Thr) c.1190A>C (p.Asn397Thr) c.2711A>C (p.Asn904Thr) c.2975A>C (p.Asn992Thr) c.2129-690A>C (n.2129-690A>C) n.3048A>C n.3256A>C c.2465A>C (p.Asn822Thr) c.1490A>C (p.Asn497Thr) c.2204A>C (p.Asn735Thr) c.3182A>C (p.Asn1061Thr) n.3000A>C n.3208A>C | |
1 | g.197434910A>G | CA344044907 | CRB1 | c.3047A>G (p.Asn1016Ser) c.1928A>G (p.Asn643Ser) c.1190A>G (p.Asn397Ser) c.2711A>G (p.Asn904Ser) c.2975A>G (p.Asn992Ser) c.2129-690A>G (n.2129-690A>G) n.3048A>G n.3256A>G c.2465A>G (p.Asn822Ser) c.1490A>G (p.Asn497Ser) c.2204A>G (p.Asn735Ser) c.3182A>G (p.Asn1061Ser) n.3000A>G n.3208A>G | |
1 | g.197434910A>T | CA344044908 | CRB1 | c.3047A>T (p.Asn1016Ile) c.1928A>T (p.Asn643Ile) c.1190A>T (p.Asn397Ile) c.2711A>T (p.Asn904Ile) c.2975A>T (p.Asn992Ile) c.2129-690A>T (n.2129-690A>T) n.3048A>T n.3256A>T c.2465A>T (p.Asn822Ile) c.1490A>T (p.Asn497Ile) c.2204A>T (p.Asn735Ile) c.3182A>T (p.Asn1061Ile) n.3000A>T n.3208A>T | |
1 | g.197434911C>A | CA344044915 | CRB1 | c.3048C>A (p.Asn1016Lys) c.1929C>A (p.Asn643Lys) c.1191C>A (p.Asn397Lys) c.2712C>A (p.Asn904Lys) c.2976C>A (p.Asn992Lys) c.2129-689C>A (n.2129-689C>A) n.3049C>A n.3257C>A c.2466C>A (p.Asn822Lys) c.1491C>A (p.Asn497Lys) c.2205C>A (p.Asn735Lys) c.3183C>A (p.Asn1061Lys) n.3001C>A n.3209C>A | |
1 | g.197434911C>G | CA344044917 | CRB1 | c.3048C>G (p.Asn1016Lys) c.1929C>G (p.Asn643Lys) c.1191C>G (p.Asn397Lys) c.2712C>G (p.Asn904Lys) c.2976C>G (p.Asn992Lys) c.2129-689C>G (n.2129-689C>G) n.3049C>G n.3257C>G c.2466C>G (p.Asn822Lys) c.1491C>G (p.Asn497Lys) c.2205C>G (p.Asn735Lys) c.3183C>G (p.Asn1061Lys) n.3001C>G n.3209C>G | |
1 | g.197434911C>T | CA422808730 | CRB1 | c.3048C>T (p.Asn1016=) c.1929C>T (p.Asn643=) c.1191C>T (p.Asn397=) c.2712C>T (p.Asn904=) c.2976C>T (p.Asn992=) c.2129-689C>T (n.2129-689C>T) n.3049C>T n.3257C>T c.2466C>T (p.Asn822=) c.1491C>T (p.Asn497=) c.2205C>T (p.Asn735=) c.3183C>T (p.Asn1061=) n.3001C>T n.3209C>T | ClinVar dbSNP gnomAD v4 |
1 | g.197434912A>C | CA344044919 | CRB1 | c.3049A>C (p.Ser1017Arg) c.1930A>C (p.Ser644Arg) c.1192A>C (p.Ser398Arg) c.2713A>C (p.Ser905Arg) c.2977A>C (p.Ser993Arg) c.2129-688A>C (n.2129-688A>C) n.3050A>C n.3258A>C c.2467A>C (p.Ser823Arg) c.1492A>C (p.Ser498Arg) c.2206A>C (p.Ser736Arg) c.3184A>C (p.Ser1062Arg) n.3002A>C n.3210A>C | |
1 | g.197434912A>G | CA344044929 | CRB1 | c.3049A>G (p.Ser1017Gly) c.1930A>G (p.Ser644Gly) c.1192A>G (p.Ser398Gly) c.2713A>G (p.Ser905Gly) c.2977A>G (p.Ser993Gly) c.2129-688A>G (n.2129-688A>G) n.3050A>G n.3258A>G c.2467A>G (p.Ser823Gly) c.1492A>G (p.Ser498Gly) c.2206A>G (p.Ser736Gly) c.3184A>G (p.Ser1062Gly) n.3002A>G n.3210A>G | ClinVar dbSNP |
1 | g.197434912A>T | CA344044931 | CRB1 | c.3049A>T (p.Ser1017Cys) c.1930A>T (p.Ser644Cys) c.1192A>T (p.Ser398Cys) c.2713A>T (p.Ser905Cys) c.2977A>T (p.Ser993Cys) c.2129-688A>T (n.2129-688A>T) n.3050A>T n.3258A>T c.2467A>T (p.Ser823Cys) c.1492A>T (p.Ser498Cys) c.2206A>T (p.Ser736Cys) c.3184A>T (p.Ser1062Cys) n.3002A>T n.3210A>T | |
1 | g.197434913G>A | CA344044940 | CRB1 | c.3050G>A (p.Ser1017Asn) c.1931G>A (p.Ser644Asn) c.1193G>A (p.Ser398Asn) c.2714G>A (p.Ser905Asn) c.2978G>A (p.Ser993Asn) c.2129-687G>A (n.2129-687G>A) n.3051G>A n.3259G>A c.2468G>A (p.Ser823Asn) c.1493G>A (p.Ser498Asn) c.2207G>A (p.Ser736Asn) c.3185G>A (p.Ser1062Asn) n.3003G>A n.3211G>A | |
1 | g.197434913G>C | CA344044957 | CRB1 | c.3050G>C (p.Ser1017Thr) c.1931G>C (p.Ser644Thr) c.1193G>C (p.Ser398Thr) c.2714G>C (p.Ser905Thr) c.2978G>C (p.Ser993Thr) c.2129-687G>C (n.2129-687G>C) n.3051G>C n.3259G>C c.2468G>C (p.Ser823Thr) c.1493G>C (p.Ser498Thr) c.2207G>C (p.Ser736Thr) c.3185G>C (p.Ser1062Thr) n.3003G>C n.3211G>C | |
1 | g.197434913G>T | CA344044948 | CRB1 | c.3050G>T (p.Ser1017Ile) c.1931G>T (p.Ser644Ile) c.1193G>T (p.Ser398Ile) c.2714G>T (p.Ser905Ile) c.2978G>T (p.Ser993Ile) c.2129-687G>T (n.2129-687G>T) n.3051G>T n.3259G>T c.2468G>T (p.Ser823Ile) c.1493G>T (p.Ser498Ile) c.2207G>T (p.Ser736Ile) c.3185G>T (p.Ser1062Ile) n.3003G>T n.3211G>T | |
1 | g.197434914C>A | CA344044962 | CRB1 | c.3051C>A (p.Ser1017Arg) c.1932C>A (p.Ser644Arg) c.1194C>A (p.Ser398Arg) c.2715C>A (p.Ser905Arg) c.2979C>A (p.Ser993Arg) c.2129-686C>A (n.2129-686C>A) n.3052C>A n.3260C>A c.2469C>A (p.Ser823Arg) c.1494C>A (p.Ser498Arg) c.2208C>A (p.Ser736Arg) c.3186C>A (p.Ser1062Arg) n.3004C>A n.3212C>A | |
1 | g.197434914C>G | CA344044976 | CRB1 | c.3051C>G (p.Ser1017Arg) c.1932C>G (p.Ser644Arg) c.1194C>G (p.Ser398Arg) c.2715C>G (p.Ser905Arg) c.2979C>G (p.Ser993Arg) c.2129-686C>G (n.2129-686C>G) n.3052C>G n.3260C>G c.2469C>G (p.Ser823Arg) c.1494C>G (p.Ser498Arg) c.2208C>G (p.Ser736Arg) c.3186C>G (p.Ser1062Arg) n.3004C>G n.3212C>G | |
1 | g.197434914C>T | CA422808733 | CRB1 | c.3051C>T (p.Ser1017=) c.1932C>T (p.Ser644=) c.1194C>T (p.Ser398=) c.2715C>T (p.Ser905=) c.2979C>T (p.Ser993=) c.2129-686C>T (n.2129-686C>T) n.3052C>T n.3260C>T c.2469C>T (p.Ser823=) c.1494C>T (p.Ser498=) c.2208C>T (p.Ser736=) c.3186C>T (p.Ser1062=) n.3004C>T n.3212C>T | ClinVar gnomAD v4 COSMIC |
1 | g.197434915T>A | CA344044980 | CRB1 | c.3052T>A (p.Phe1018Ile) c.1933T>A (p.Phe645Ile) c.1195T>A (p.Phe399Ile) c.2716T>A (p.Phe906Ile) c.2980T>A (p.Phe994Ile) c.2129-685T>A (n.2129-685T>A) n.3053T>A n.3261T>A c.2470T>A (p.Phe824Ile) c.1495T>A (p.Phe499Ile) c.2209T>A (p.Phe737Ile) c.3187T>A (p.Phe1063Ile) n.3005T>A n.3213T>A | |
1 | g.197434915T>C | CA344044995 | CRB1 | c.3052T>C (p.Phe1018Leu) c.1933T>C (p.Phe645Leu) c.1195T>C (p.Phe399Leu) c.2716T>C (p.Phe906Leu) c.2980T>C (p.Phe994Leu) c.2129-685T>C (n.2129-685T>C) n.3053T>C n.3261T>C c.2470T>C (p.Phe824Leu) c.1495T>C (p.Phe499Leu) c.2209T>C (p.Phe737Leu) c.3187T>C (p.Phe1063Leu) n.3005T>C n.3213T>C | COSMIC COSMIC |
1 | g.197434915T>G | CA344044997 | CRB1 | c.3052T>G (p.Phe1018Val) c.1933T>G (p.Phe645Val) c.1195T>G (p.Phe399Val) c.2716T>G (p.Phe906Val) c.2980T>G (p.Phe994Val) c.2129-685T>G (n.2129-685T>G) n.3053T>G n.3261T>G c.2470T>G (p.Phe824Val) c.1495T>G (p.Phe499Val) c.2209T>G (p.Phe737Val) c.3187T>G (p.Phe1063Val) n.3005T>G n.3213T>G | |
1 | g.197434916T>A | CA344045013 | CRB1 | c.3053T>A (p.Phe1018Tyr) c.1934T>A (p.Phe645Tyr) c.1196T>A (p.Phe399Tyr) c.2717T>A (p.Phe906Tyr) c.2981T>A (p.Phe994Tyr) c.2129-684T>A (n.2129-684T>A) n.3054T>A n.3262T>A c.2471T>A (p.Phe824Tyr) c.1496T>A (p.Phe499Tyr) c.2210T>A (p.Phe737Tyr) c.3188T>A (p.Phe1063Tyr) n.3006T>A n.3214T>A | |
1 | g.197434916T>C | CA344045017 | CRB1 | c.3053T>C (p.Phe1018Ser) c.1934T>C (p.Phe645Ser) c.1196T>C (p.Phe399Ser) c.2717T>C (p.Phe906Ser) c.2981T>C (p.Phe994Ser) c.2129-684T>C (n.2129-684T>C) n.3054T>C n.3262T>C c.2471T>C (p.Phe824Ser) c.1496T>C (p.Phe499Ser) c.2210T>C (p.Phe737Ser) c.3188T>C (p.Phe1063Ser) n.3006T>C n.3214T>C | gnomAD v4 |
1 | g.197434916T>G | CA344045023 | CRB1 | c.3053T>G (p.Phe1018Cys) c.1934T>G (p.Phe645Cys) c.1196T>G (p.Phe399Cys) c.2717T>G (p.Phe906Cys) c.2981T>G (p.Phe994Cys) c.2129-684T>G (n.2129-684T>G) n.3054T>G n.3262T>G c.2471T>G (p.Phe824Cys) c.1496T>G (p.Phe499Cys) c.2210T>G (p.Phe737Cys) c.3188T>G (p.Phe1063Cys) n.3006T>G n.3214T>G | dbSNP gnomAD v4 |
1 | g.197434916T= | CA1218068715 | CRB1 | c.3053T= (p.Phe1018=) c.1934T= (p.Phe645=) c.1196T= (p.Phe399=) c.2717T= (p.Phe906=) c.2981T= (p.Phe994=) c.2129-684T= (n.2129-684T=) n.3054T= n.3262T= c.2471T= (p.Phe824=) c.1496T= (p.Phe499=) c.2210T= (p.Phe737=) c.3188T= (p.Phe1063=) n.3006T= n.3214T= | |
1 | g.197434917T>A | CA344045027 | CRB1 | c.3054T>A (p.Phe1018Leu) c.1935T>A (p.Phe645Leu) c.1197T>A (p.Phe399Leu) c.2718T>A (p.Phe906Leu) c.2982T>A (p.Phe994Leu) c.2129-683T>A (n.2129-683T>A) n.3055T>A n.3263T>A c.2472T>A (p.Phe824Leu) c.1497T>A (p.Phe499Leu) c.2211T>A (p.Phe737Leu) c.3189T>A (p.Phe1063Leu) n.3007T>A n.3215T>A | |
1 | g.197434917T>C | CA35906890 | CRB1 | c.3054T>C (p.Phe1018=) c.1935T>C (p.Phe645=) c.1197T>C (p.Phe399=) c.2718T>C (p.Phe906=) c.2982T>C (p.Phe994=) c.2129-683T>C (n.2129-683T>C) n.3055T>C n.3263T>C c.2472T>C (p.Phe824=) c.1497T>C (p.Phe499=) c.2211T>C (p.Phe737=) c.3189T>C (p.Phe1063=) n.3007T>C n.3215T>C | ClinVar dbSNP gnomAD v4 |
1 | g.197434917T>G | CA344045033 | CRB1 | c.3054T>G (p.Phe1018Leu) c.1935T>G (p.Phe645Leu) c.1197T>G (p.Phe399Leu) c.2718T>G (p.Phe906Leu) c.2982T>G (p.Phe994Leu) c.2129-683T>G (n.2129-683T>G) n.3055T>G n.3263T>G c.2472T>G (p.Phe824Leu) c.1497T>G (p.Phe499Leu) c.2211T>G (p.Phe737Leu) c.3189T>G (p.Phe1063Leu) n.3007T>G n.3215T>G | |
1 | g.197434917T= | CA1218068716 | CRB1 | c.3054T= (p.Phe1018=) c.1935T= (p.Phe645=) c.1197T= (p.Phe399=) c.2718T= (p.Phe906=) c.2982T= (p.Phe994=) c.2129-683T= (n.2129-683T=) n.3055T= n.3263T= c.2472T= (p.Phe824=) c.1497T= (p.Phe499=) c.2211T= (p.Phe737=) c.3189T= (p.Phe1063=) n.3007T= n.3215T= | |
1 | g.197434918_197434922dup | CA2586967864 | CRB1 | c.3055_3059dup (p.Met1020IlefsTer4) c.1936_1940dup (p.Met647IlefsTer4) c.1198_1202dup (p.Met401IlefsTer4) c.2719_2723dup (p.Met908IlefsTer4) c.2983_2987dup (p.Met996IlefsTer4) c.2129-682_2129-678dup (n.2129-682_2129-678dup) n.3056_3060dup n.3264_3268dup c.2473_2477dup (p.Met826IlefsTer4) c.1498_1502dup (p.Met501IlefsTer4) c.2212_2216dup (p.Met739IlefsTer4) c.3190_3194dup (p.Met1065IlefsTer4) n.3008_3012dup n.3216_3220dup | ClinVar |
1 | g.197434918T>A | CA344045037 | CRB1 | c.3055T>A (p.Tyr1019Asn) c.1936T>A (p.Tyr646Asn) c.1198T>A (p.Tyr400Asn) c.2719T>A (p.Tyr907Asn) c.2983T>A (p.Tyr995Asn) c.2129-682T>A (n.2129-682T>A) n.3056T>A n.3264T>A c.2473T>A (p.Tyr825Asn) c.1498T>A (p.Tyr500Asn) c.2212T>A (p.Tyr738Asn) c.3190T>A (p.Tyr1064Asn) n.3008T>A n.3216T>A | |
1 | g.197434918T>C | CA344045036 | CRB1 | c.3055T>C (p.Tyr1019His) c.1936T>C (p.Tyr646His) c.1198T>C (p.Tyr400His) c.2719T>C (p.Tyr907His) c.2983T>C (p.Tyr995His) c.2129-682T>C (n.2129-682T>C) n.3056T>C n.3264T>C c.2473T>C (p.Tyr825His) c.1498T>C (p.Tyr500His) c.2212T>C (p.Tyr738His) c.3190T>C (p.Tyr1064His) n.3008T>C n.3216T>C | |
1 | g.197434918T>G | CA344045035 | CRB1 | c.3055T>G (p.Tyr1019Asp) c.1936T>G (p.Tyr646Asp) c.1198T>G (p.Tyr400Asp) c.2719T>G (p.Tyr907Asp) c.2983T>G (p.Tyr995Asp) c.2129-682T>G (n.2129-682T>G) n.3056T>G n.3264T>G c.2473T>G (p.Tyr825Asp) c.1498T>G (p.Tyr500Asp) c.2212T>G (p.Tyr738Asp) c.3190T>G (p.Tyr1064Asp) n.3008T>G n.3216T>G | |
1 | g.197434919A= | CA1218068717 | CRB1 | c.3056A= (p.Tyr1019=) c.1937A= (p.Tyr646=) c.1199A= (p.Tyr400=) c.2720A= (p.Tyr907=) c.2984A= (p.Tyr995=) c.2129-681A= (n.2129-681A=) n.3057A= n.3265A= c.2474A= (p.Tyr825=) c.1499A= (p.Tyr500=) c.2213A= (p.Tyr738=) c.3191A= (p.Tyr1064=) n.3009A= n.3217A= | |
1 | g.197434919A>C | CA344045038 | CRB1 | c.3056A>C (p.Tyr1019Ser) c.1937A>C (p.Tyr646Ser) c.1199A>C (p.Tyr400Ser) c.2720A>C (p.Tyr907Ser) c.2984A>C (p.Tyr995Ser) c.2129-681A>C (n.2129-681A>C) n.3057A>C n.3265A>C c.2474A>C (p.Tyr825Ser) c.1499A>C (p.Tyr500Ser) c.2213A>C (p.Tyr738Ser) c.3191A>C (p.Tyr1064Ser) n.3009A>C n.3217A>C | |
1 | g.197434919A>G | CA344045044 | CRB1 | c.3056A>G (p.Tyr1019Cys) c.1937A>G (p.Tyr646Cys) c.1199A>G (p.Tyr400Cys) c.2720A>G (p.Tyr907Cys) c.2984A>G (p.Tyr995Cys) c.2129-681A>G (n.2129-681A>G) n.3057A>G n.3265A>G c.2474A>G (p.Tyr825Cys) c.1499A>G (p.Tyr500Cys) c.2213A>G (p.Tyr738Cys) c.3191A>G (p.Tyr1064Cys) n.3009A>G n.3217A>G | |
1 | g.197434919A>T | CA344045040 | CRB1 | c.3056A>T (p.Tyr1019Phe) c.1937A>T (p.Tyr646Phe) c.1199A>T (p.Tyr400Phe) c.2720A>T (p.Tyr907Phe) c.2984A>T (p.Tyr995Phe) c.2129-681A>T (n.2129-681A>T) n.3057A>T n.3265A>T c.2474A>T (p.Tyr825Phe) c.1499A>T (p.Tyr500Phe) c.2213A>T (p.Tyr738Phe) c.3191A>T (p.Tyr1064Phe) n.3009A>T n.3217A>T | dbSNP |
1 | g.197434920T>A | CA344045048 | CRB1 | c.3057T>A (p.Tyr1019Ter) c.1938T>A (p.Tyr646Ter) c.1200T>A (p.Tyr400Ter) c.2721T>A (p.Tyr907Ter) c.2985T>A (p.Tyr995Ter) c.2129-680T>A (n.2129-680T>A) n.3058T>A n.3266T>A c.2475T>A (p.Tyr825Ter) c.1500T>A (p.Tyr500Ter) c.2214T>A (p.Tyr738Ter) c.3192T>A (p.Tyr1064Ter) n.3010T>A n.3218T>A | gnomAD v4 |
1 | g.197434920T>C | CA422808736 | CRB1 | c.3057T>C (p.Tyr1019=) c.1938T>C (p.Tyr646=) c.1200T>C (p.Tyr400=) c.2721T>C (p.Tyr907=) c.2985T>C (p.Tyr995=) c.2129-680T>C (n.2129-680T>C) n.3058T>C n.3266T>C c.2475T>C (p.Tyr825=) c.1500T>C (p.Tyr500=) c.2214T>C (p.Tyr738=) c.3192T>C (p.Tyr1064=) n.3010T>C n.3218T>C | gnomAD v4 |
1 | g.197434920T>G | CA344045051 | CRB1 | c.3057T>G (p.Tyr1019Ter) c.1938T>G (p.Tyr646Ter) c.1200T>G (p.Tyr400Ter) c.2721T>G (p.Tyr907Ter) c.2985T>G (p.Tyr995Ter) c.2129-680T>G (n.2129-680T>G) n.3058T>G n.3266T>G c.2475T>G (p.Tyr825Ter) c.1500T>G (p.Tyr500Ter) c.2214T>G (p.Tyr738Ter) c.3192T>G (p.Tyr1064Ter) n.3010T>G n.3218T>G | |
1 | g.197434921A= | CA1144215017 | CRB1 | c.3058A= (p.Met1020=) c.1939A= (p.Met647=) c.1201A= (p.Met401=) c.2722A= (p.Met908=) c.2986A= (p.Met996=) c.2129-679A= (n.2129-679A=) n.3059A= n.3267A= c.2476A= (p.Met826=) c.1501A= (p.Met501=) c.2215A= (p.Met739=) c.3193A= (p.Met1065=) n.3011A= n.3219A= | |
1 | g.197434921A>C | CA344045061 | CRB1 | c.3058A>C (p.Met1020Leu) c.1939A>C (p.Met647Leu) c.1201A>C (p.Met401Leu) c.2722A>C (p.Met908Leu) c.2986A>C (p.Met996Leu) c.2129-679A>C (n.2129-679A>C) n.3059A>C n.3267A>C c.2476A>C (p.Met826Leu) c.1501A>C (p.Met501Leu) c.2215A>C (p.Met739Leu) c.3193A>C (p.Met1065Leu) n.3011A>C n.3219A>C | |
1 | g.197434921A>G | CA1312267 | CRB1 | c.3058A>G (p.Met1020Val) c.1939A>G (p.Met647Val) c.1201A>G (p.Met401Val) c.2722A>G (p.Met908Val) c.2986A>G (p.Met996Val) c.2129-679A>G (n.2129-679A>G) n.3059A>G n.3267A>G c.2476A>G (p.Met826Val) c.1501A>G (p.Met501Val) c.2215A>G (p.Met739Val) c.3193A>G (p.Met1065Val) n.3011A>G n.3219A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197434921A>T | CA344045065 | CRB1 | c.3058A>T (p.Met1020Leu) c.1939A>T (p.Met647Leu) c.1201A>T (p.Met401Leu) c.2722A>T (p.Met908Leu) c.2986A>T (p.Met996Leu) c.2129-679A>T (n.2129-679A>T) n.3059A>T n.3267A>T c.2476A>T (p.Met826Leu) c.1501A>T (p.Met501Leu) c.2215A>T (p.Met739Leu) c.3193A>T (p.Met1065Leu) n.3011A>T n.3219A>T | |
1 | g.197434922del | CA2586967865 | CRB1 | c.3059del (p.Met1020SerfsTer2) c.1940del (p.Met647SerfsTer2) c.1202del (p.Met401SerfsTer2) c.2723del (p.Met908SerfsTer2) c.2987del (p.Met996SerfsTer2) c.2129-678del (n.2129-678del) n.3060del n.3268del c.2477del (p.Met826SerfsTer2) c.1502del (p.Met501SerfsTer2) c.2216del (p.Met739SerfsTer2) c.3194del (p.Met1065SerfsTer2) n.3012del n.3220del | |
1 | g.197434922T>A | CA344045072 | CRB1 | c.3059T>A (p.Met1020Lys) c.1940T>A (p.Met647Lys) c.1202T>A (p.Met401Lys) c.2723T>A (p.Met908Lys) c.2987T>A (p.Met996Lys) c.2129-678T>A (n.2129-678T>A) n.3060T>A n.3268T>A c.2477T>A (p.Met826Lys) c.1502T>A (p.Met501Lys) c.2216T>A (p.Met739Lys) c.3194T>A (p.Met1065Lys) n.3012T>A n.3220T>A | gnomAD v4 |
1 | g.197434922T>C | CA1312268 | CRB1 | c.3059T>C (p.Met1020Thr) c.1940T>C (p.Met647Thr) c.1202T>C (p.Met401Thr) c.2723T>C (p.Met908Thr) c.2987T>C (p.Met996Thr) c.2129-678T>C (n.2129-678T>C) n.3060T>C n.3268T>C c.2477T>C (p.Met826Thr) c.1502T>C (p.Met501Thr) c.2216T>C (p.Met739Thr) c.3194T>C (p.Met1065Thr) n.3012T>C n.3220T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434922T>G | CA344045081 | CRB1 | c.3059T>G (p.Met1020Arg) c.1940T>G (p.Met647Arg) c.1202T>G (p.Met401Arg) c.2723T>G (p.Met908Arg) c.2987T>G (p.Met996Arg) c.2129-678T>G (n.2129-678T>G) n.3060T>G n.3268T>G c.2477T>G (p.Met826Arg) c.1502T>G (p.Met501Arg) c.2216T>G (p.Met739Arg) c.3194T>G (p.Met1065Arg) n.3012T>G n.3220T>G | |
1 | g.197434922T= | CA1218068718 | CRB1 | c.3059T= (p.Met1020=) c.1940T= (p.Met647=) c.1202T= (p.Met401=) c.2723T= (p.Met908=) c.2987T= (p.Met996=) c.2129-678T= (n.2129-678T=) n.3060T= n.3268T= c.2477T= (p.Met826=) c.1502T= (p.Met501=) c.2216T= (p.Met739=) c.3194T= (p.Met1065=) n.3012T= n.3220T= | |
1 | g.197434923G>A | CA344045100 | CRB1 | c.3060G>A (p.Met1020Ile) c.1941G>A (p.Met647Ile) c.1203G>A (p.Met401Ile) c.2724G>A (p.Met908Ile) c.2988G>A (p.Met996Ile) c.2129-677G>A (n.2129-677G>A) n.3061G>A n.3269G>A c.2478G>A (p.Met826Ile) c.1503G>A (p.Met501Ile) c.2217G>A (p.Met739Ile) c.3195G>A (p.Met1065Ile) n.3013G>A n.3221G>A | |
1 | g.197434923G>C | CA344045105 | CRB1 | c.3060G>C (p.Met1020Ile) c.1941G>C (p.Met647Ile) c.1203G>C (p.Met401Ile) c.2724G>C (p.Met908Ile) c.2988G>C (p.Met996Ile) c.2129-677G>C (n.2129-677G>C) n.3061G>C n.3269G>C c.2478G>C (p.Met826Ile) c.1503G>C (p.Met501Ile) c.2217G>C (p.Met739Ile) c.3195G>C (p.Met1065Ile) n.3013G>C n.3221G>C | |
1 | g.197434923G>T | CA344045107 | CRB1 | c.3060G>T (p.Met1020Ile) c.1941G>T (p.Met647Ile) c.1203G>T (p.Met401Ile) c.2724G>T (p.Met908Ile) c.2988G>T (p.Met996Ile) c.2129-677G>T (n.2129-677G>T) n.3061G>T n.3269G>T c.2478G>T (p.Met826Ile) c.1503G>T (p.Met501Ile) c.2217G>T (p.Met739Ile) c.3195G>T (p.Met1065Ile) n.3013G>T n.3221G>T | |
1 | g.197434924C>A | CA344045109 | CRB1 | c.3061C>A (p.Leu1021Ile) c.1942C>A (p.Leu648Ile) c.1204C>A (p.Leu402Ile) c.2725C>A (p.Leu909Ile) c.2989C>A (p.Leu997Ile) c.2129-676C>A (n.2129-676C>A) n.3062C>A n.3270C>A c.2479C>A (p.Leu827Ile) c.1504C>A (p.Leu502Ile) c.2218C>A (p.Leu740Ile) c.3196C>A (p.Leu1066Ile) n.3014C>A n.3222C>A | |
1 | g.197434924C>G | CA344045111 | CRB1 | c.3061C>G (p.Leu1021Val) c.1942C>G (p.Leu648Val) c.1204C>G (p.Leu402Val) c.2725C>G (p.Leu909Val) c.2989C>G (p.Leu997Val) c.2129-676C>G (n.2129-676C>G) n.3062C>G n.3270C>G c.2479C>G (p.Leu827Val) c.1504C>G (p.Leu502Val) c.2218C>G (p.Leu740Val) c.3196C>G (p.Leu1066Val) n.3014C>G n.3222C>G | |
1 | g.197434924C>T | CA422808743 | CRB1 | c.3061C>T (p.Leu1021=) c.1942C>T (p.Leu648=) c.1204C>T (p.Leu402=) c.2725C>T (p.Leu909=) c.2989C>T (p.Leu997=) c.2129-676C>T (n.2129-676C>T) n.3062C>T n.3270C>T c.2479C>T (p.Leu827=) c.1504C>T (p.Leu502=) c.2218C>T (p.Leu740=) c.3196C>T (p.Leu1066=) n.3014C>T n.3222C>T | dbSNP |
1 | g.197434925T>A | CA344045122 | CRB1 | c.3062T>A (p.Leu1021Gln) c.1943T>A (p.Leu648Gln) c.1205T>A (p.Leu402Gln) c.2726T>A (p.Leu909Gln) c.2990T>A (p.Leu997Gln) c.2129-675T>A (n.2129-675T>A) n.3063T>A n.3271T>A c.2480T>A (p.Leu827Gln) c.1505T>A (p.Leu502Gln) c.2219T>A (p.Leu740Gln) c.3197T>A (p.Leu1066Gln) n.3015T>A n.3223T>A | |
1 | g.197434925T>C | CA344045114 | CRB1 | c.3062T>C (p.Leu1021Pro) c.1943T>C (p.Leu648Pro) c.1205T>C (p.Leu402Pro) c.2726T>C (p.Leu909Pro) c.2990T>C (p.Leu997Pro) c.2129-675T>C (n.2129-675T>C) n.3063T>C n.3271T>C c.2480T>C (p.Leu827Pro) c.1505T>C (p.Leu502Pro) c.2219T>C (p.Leu740Pro) c.3197T>C (p.Leu1066Pro) n.3015T>C n.3223T>C | ClinVar dbSNP |
1 | g.197434925T>G | CA344045118 | CRB1 | c.3062T>G (p.Leu1021Arg) c.1943T>G (p.Leu648Arg) c.1205T>G (p.Leu402Arg) c.2726T>G (p.Leu909Arg) c.2990T>G (p.Leu997Arg) c.2129-675T>G (n.2129-675T>G) n.3063T>G n.3271T>G c.2480T>G (p.Leu827Arg) c.1505T>G (p.Leu502Arg) c.2219T>G (p.Leu740Arg) c.3197T>G (p.Leu1066Arg) n.3015T>G n.3223T>G | |
1 | g.197434925T= | CA1218068719 | CRB1 | c.3062T= (p.Leu1021=) c.1943T= (p.Leu648=) c.1205T= (p.Leu402=) c.2726T= (p.Leu909=) c.2990T= (p.Leu997=) c.2129-675T= (n.2129-675T=) n.3063T= n.3271T= c.2480T= (p.Leu827=) c.1505T= (p.Leu502=) c.2219T= (p.Leu740=) c.3197T= (p.Leu1066=) n.3015T= n.3223T= | |
1 | g.197434925_197434927delinsTAA | CA1218068720 | CRB1 | c.3062_3064delinsTAA (p.Leu1021=) c.1943_1945delinsTAA (p.Leu648=) c.1205_1207delinsTAA (p.Leu402=) c.2726_2728delinsTAA (p.Leu909=) c.2990_2992delinsTAA (p.Leu997=) c.2129-675_2129-673delinsTAA (n.2129-675_2129-673delinsTAA) n.3063_3065delinsTAA n.3271_3273delinsTAA c.2480_2482delinsTAA (p.Leu827=) c.1505_1507delinsTAA (p.Leu502=) c.2219_2221delinsTAA (p.Leu740=) c.3197_3199delinsTAA (p.Leu1066=) n.3015_3017delinsTAA n.3223_3225delinsTAA | |
1 | g.197434926A>C | CA422808744 | CRB1 | c.3063A>C (p.Leu1021=) c.1944A>C (p.Leu648=) c.1206A>C (p.Leu402=) c.2727A>C (p.Leu909=) c.2991A>C (p.Leu997=) c.2129-674A>C (n.2129-674A>C) n.3064A>C n.3272A>C c.2481A>C (p.Leu827=) c.1506A>C (p.Leu502=) c.2220A>C (p.Leu740=) c.3198A>C (p.Leu1066=) n.3016A>C n.3224A>C | |
1 | g.197434926A>G | CA422808745 | CRB1 | c.3063A>G (p.Leu1021=) c.1944A>G (p.Leu648=) c.1206A>G (p.Leu402=) c.2727A>G (p.Leu909=) c.2991A>G (p.Leu997=) c.2129-674A>G (n.2129-674A>G) n.3064A>G n.3272A>G c.2481A>G (p.Leu827=) c.1506A>G (p.Leu502=) c.2220A>G (p.Leu740=) c.3198A>G (p.Leu1066=) n.3016A>G n.3224A>G | gnomAD v4 |
1 | g.197434926A>T | CA422808746 | CRB1 | c.3063A>T (p.Leu1021=) c.1944A>T (p.Leu648=) c.1206A>T (p.Leu402=) c.2727A>T (p.Leu909=) c.2991A>T (p.Leu997=) c.2129-674A>T (n.2129-674A>T) n.3064A>T n.3272A>T c.2481A>T (p.Leu827=) c.1506A>T (p.Leu502=) c.2220A>T (p.Leu740=) c.3198A>T (p.Leu1066=) n.3016A>T n.3224A>T | |
1 | g.197434926_197434927del | CA1218068721 | CRB1 | c.3063_3064del (p.Leu1023AspfsTer8) c.1944_1945del (p.Leu650AspfsTer8) c.1206_1207del (p.Leu404AspfsTer8) c.2727_2728del (p.Leu911AspfsTer8) c.2991_2992del (p.Leu999AspfsTer8) c.2129-674_2129-673del (n.2129-674_2129-673del) n.3064_3065del n.3272_3273del c.2481_2482del (p.Leu829AspfsTer8) c.1506_1507del (p.Leu504AspfsTer8) c.2220_2221del (p.Leu742AspfsTer8) c.3198_3199del (p.Leu1068AspfsTer8) n.3016_3017del n.3224_3225del | dbSNP |
1 | g.197434927A= | CA1218068722 | CRB1 | c.3064A= (p.Ser1022=) c.1945A= (p.Ser649=) c.1207A= (p.Ser403=) c.2728A= (p.Ser910=) c.2992A= (p.Ser998=) c.2129-673A= (n.2129-673A=) n.3065A= n.3273A= c.2482A= (p.Ser828=) c.1507A= (p.Ser503=) c.2221A= (p.Ser741=) c.3199A= (p.Ser1067=) n.3017A= n.3225A= | |
1 | g.197434927A>C | CA344045130 | CRB1 | c.3064A>C (p.Ser1022Arg) c.1945A>C (p.Ser649Arg) c.1207A>C (p.Ser403Arg) c.2728A>C (p.Ser910Arg) c.2992A>C (p.Ser998Arg) c.2129-673A>C (n.2129-673A>C) n.3065A>C n.3273A>C c.2482A>C (p.Ser828Arg) c.1507A>C (p.Ser503Arg) c.2221A>C (p.Ser741Arg) c.3199A>C (p.Ser1067Arg) n.3017A>C n.3225A>C | COSMIC COSMIC |
1 | g.197434927A>G | CA344045133 | CRB1 | c.3064A>G (p.Ser1022Gly) c.1945A>G (p.Ser649Gly) c.1207A>G (p.Ser403Gly) c.2728A>G (p.Ser910Gly) c.2992A>G (p.Ser998Gly) c.2129-673A>G (n.2129-673A>G) n.3065A>G n.3273A>G c.2482A>G (p.Ser828Gly) c.1507A>G (p.Ser503Gly) c.2221A>G (p.Ser741Gly) c.3199A>G (p.Ser1067Gly) n.3017A>G n.3225A>G | |
1 | g.197434927A>T | CA35906928 | CRB1 | c.3064A>T (p.Ser1022Cys) c.1945A>T (p.Ser649Cys) c.1207A>T (p.Ser403Cys) c.2728A>T (p.Ser910Cys) c.2992A>T (p.Ser998Cys) c.2129-673A>T (n.2129-673A>T) n.3065A>T n.3273A>T c.2482A>T (p.Ser828Cys) c.1507A>T (p.Ser503Cys) c.2221A>T (p.Ser741Cys) c.3199A>T (p.Ser1067Cys) n.3017A>T n.3225A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434928G>A | CA344045141 | CRB1 | c.3065G>A (p.Ser1022Asn) c.1946G>A (p.Ser649Asn) c.1208G>A (p.Ser403Asn) c.2729G>A (p.Ser910Asn) c.2993G>A (p.Ser998Asn) c.2129-672G>A (n.2129-672G>A) n.3066G>A n.3274G>A c.2483G>A (p.Ser828Asn) c.1508G>A (p.Ser503Asn) c.2222G>A (p.Ser741Asn) c.3200G>A (p.Ser1067Asn) n.3018G>A n.3226G>A | |
1 | g.197434928G>C | CA344045174 | CRB1 | c.3065G>C (p.Ser1022Thr) c.1946G>C (p.Ser649Thr) c.1208G>C (p.Ser403Thr) c.2729G>C (p.Ser910Thr) c.2993G>C (p.Ser998Thr) c.2129-672G>C (n.2129-672G>C) n.3066G>C n.3274G>C c.2483G>C (p.Ser828Thr) c.1508G>C (p.Ser503Thr) c.2222G>C (p.Ser741Thr) c.3200G>C (p.Ser1067Thr) n.3018G>C n.3226G>C | |
1 | g.197434928G>T | CA344045179 | CRB1 | c.3065G>T (p.Ser1022Ile) c.1946G>T (p.Ser649Ile) c.1208G>T (p.Ser403Ile) c.2729G>T (p.Ser910Ile) c.2993G>T (p.Ser998Ile) c.2129-672G>T (n.2129-672G>T) n.3066G>T n.3274G>T c.2483G>T (p.Ser828Ile) c.1508G>T (p.Ser503Ile) c.2222G>T (p.Ser741Ile) c.3200G>T (p.Ser1067Ile) n.3018G>T n.3226G>T | |
1 | g.197434929T>A | CA344045182 | CRB1 | c.3066T>A (p.Ser1022Arg) c.1947T>A (p.Ser649Arg) c.1209T>A (p.Ser403Arg) c.2730T>A (p.Ser910Arg) c.2994T>A (p.Ser998Arg) c.2129-671T>A (n.2129-671T>A) n.3067T>A n.3275T>A c.2484T>A (p.Ser828Arg) c.1509T>A (p.Ser503Arg) c.2223T>A (p.Ser741Arg) c.3201T>A (p.Ser1067Arg) n.3019T>A n.3227T>A | |
1 | g.197434929T>C | CA422808749 | CRB1 | c.3066T>C (p.Ser1022=) c.1947T>C (p.Ser649=) c.1209T>C (p.Ser403=) c.2730T>C (p.Ser910=) c.2994T>C (p.Ser998=) c.2129-671T>C (n.2129-671T>C) n.3067T>C n.3275T>C c.2484T>C (p.Ser828=) c.1509T>C (p.Ser503=) c.2223T>C (p.Ser741=) c.3201T>C (p.Ser1067=) n.3019T>C n.3227T>C | gnomAD v4 |
1 | g.197434929T>G | CA344045185 | CRB1 | c.3066T>G (p.Ser1022Arg) c.1947T>G (p.Ser649Arg) c.1209T>G (p.Ser403Arg) c.2730T>G (p.Ser910Arg) c.2994T>G (p.Ser998Arg) c.2129-671T>G (n.2129-671T>G) n.3067T>G n.3275T>G c.2484T>G (p.Ser828Arg) c.1509T>G (p.Ser503Arg) c.2223T>G (p.Ser741Arg) c.3201T>G (p.Ser1067Arg) n.3019T>G n.3227T>G | gnomAD v4 |
1 | g.197434930C>A | CA344045186 | CRB1 | c.3067C>A (p.Leu1023Met) c.1948C>A (p.Leu650Met) c.1210C>A (p.Leu404Met) c.2731C>A (p.Leu911Met) c.2995C>A (p.Leu999Met) c.2129-670C>A (n.2129-670C>A) n.3068C>A n.3276C>A c.2485C>A (p.Leu829Met) c.1510C>A (p.Leu504Met) c.2224C>A (p.Leu742Met) c.3202C>A (p.Leu1068Met) n.3020C>A n.3228C>A | |
1 | g.197434930C= | CA1218068723 | CRB1 | c.3067C= (p.Leu1023=) c.1948C= (p.Leu650=) c.1210C= (p.Leu404=) c.2731C= (p.Leu911=) c.2995C= (p.Leu999=) c.2129-670C= (n.2129-670C=) n.3068C= n.3276C= c.2485C= (p.Leu829=) c.1510C= (p.Leu504=) c.2224C= (p.Leu742=) c.3202C= (p.Leu1068=) n.3020C= n.3228C= | |
1 | g.197434930C>G | CA344045187 | CRB1 | c.3067C>G (p.Leu1023Val) c.1948C>G (p.Leu650Val) c.1210C>G (p.Leu404Val) c.2731C>G (p.Leu911Val) c.2995C>G (p.Leu999Val) c.2129-670C>G (n.2129-670C>G) n.3068C>G n.3276C>G c.2485C>G (p.Leu829Val) c.1510C>G (p.Leu504Val) c.2224C>G (p.Leu742Val) c.3202C>G (p.Leu1068Val) n.3020C>G n.3228C>G | dbSNP |
1 | g.197434930C>T | CA422808750 | CRB1 | c.3067C>T (p.Leu1023=) c.1948C>T (p.Leu650=) c.1210C>T (p.Leu404=) c.2731C>T (p.Leu911=) c.2995C>T (p.Leu999=) c.2129-670C>T (n.2129-670C>T) n.3068C>T n.3276C>T c.2485C>T (p.Leu829=) c.1510C>T (p.Leu504=) c.2224C>T (p.Leu742=) c.3202C>T (p.Leu1068=) n.3020C>T n.3228C>T | COSMIC COSMIC |
1 | g.197434931T>A | CA344045190 | CRB1 | c.3068T>A (p.Leu1023Gln) c.1949T>A (p.Leu650Gln) c.1211T>A (p.Leu404Gln) c.2732T>A (p.Leu911Gln) c.2996T>A (p.Leu999Gln) c.2129-669T>A (n.2129-669T>A) n.3069T>A n.3277T>A c.2486T>A (p.Leu829Gln) c.1511T>A (p.Leu504Gln) c.2225T>A (p.Leu742Gln) c.3203T>A (p.Leu1068Gln) n.3021T>A n.3229T>A | |
1 | g.197434931T>C | CA344045194 | CRB1 | c.3068T>C (p.Leu1023Pro) c.1949T>C (p.Leu650Pro) c.1211T>C (p.Leu404Pro) c.2732T>C (p.Leu911Pro) c.2996T>C (p.Leu999Pro) c.2129-669T>C (n.2129-669T>C) n.3069T>C n.3277T>C c.2486T>C (p.Leu829Pro) c.1511T>C (p.Leu504Pro) c.2225T>C (p.Leu742Pro) c.3203T>C (p.Leu1068Pro) n.3021T>C n.3229T>C | |
1 | g.197434931T>G | CA344045188 | CRB1 | c.3068T>G (p.Leu1023Arg) c.1949T>G (p.Leu650Arg) c.1211T>G (p.Leu404Arg) c.2732T>G (p.Leu911Arg) c.2996T>G (p.Leu999Arg) c.2129-669T>G (n.2129-669T>G) n.3069T>G n.3277T>G c.2486T>G (p.Leu829Arg) c.1511T>G (p.Leu504Arg) c.2225T>G (p.Leu742Arg) c.3203T>G (p.Leu1068Arg) n.3021T>G n.3229T>G | ClinVar dbSNP gnomAD v4 |
1 | g.197434931T= | CA1218068724 | CRB1 | c.3068T= (p.Leu1023=) c.1949T= (p.Leu650=) c.1211T= (p.Leu404=) c.2732T= (p.Leu911=) c.2996T= (p.Leu999=) c.2129-669T= (n.2129-669T=) n.3069T= n.3277T= c.2486T= (p.Leu829=) c.1511T= (p.Leu504=) c.2225T= (p.Leu742=) c.3203T= (p.Leu1068=) n.3021T= n.3229T= | |
1 | g.197434932del | CA2649670639 | CRB1 | c.3069del (p.Thr1024GlnfsTer6) c.1950del (p.Thr651GlnfsTer6) c.1212del (p.Thr405GlnfsTer6) c.2733del (p.Thr912GlnfsTer6) c.2997del (p.Thr1000GlnfsTer6) c.2129-668del (n.2129-668del) n.3070del n.3278del c.2487del (p.Thr830GlnfsTer6) c.1512del (p.Thr505GlnfsTer6) c.2226del (p.Thr743GlnfsTer6) c.3204del (p.Thr1069GlnfsTer6) n.3022del n.3230del | gnomAD v4 |
1 | g.197434932G>A | CA35906929 | CRB1 | c.3069G>A (p.Leu1023=) c.1950G>A (p.Leu650=) c.1212G>A (p.Leu404=) c.2733G>A (p.Leu911=) c.2997G>A (p.Leu999=) c.2129-668G>A (n.2129-668G>A) n.3070G>A n.3278G>A c.2487G>A (p.Leu829=) c.1512G>A (p.Leu504=) c.2226G>A (p.Leu742=) c.3204G>A (p.Leu1068=) n.3022G>A n.3230G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.197434932G>C | CA422808753 | CRB1 | c.3069G>C (p.Leu1023=) c.1950G>C (p.Leu650=) c.1212G>C (p.Leu404=) c.2733G>C (p.Leu911=) c.2997G>C (p.Leu999=) c.2129-668G>C (n.2129-668G>C) n.3070G>C n.3278G>C c.2487G>C (p.Leu829=) c.1512G>C (p.Leu504=) c.2226G>C (p.Leu742=) c.3204G>C (p.Leu1068=) n.3022G>C n.3230G>C | |
1 | g.197434932G= | CA1143515758 | CRB1 | c.3069G= (p.Leu1023=) c.1950G= (p.Leu650=) c.1212G= (p.Leu404=) c.2733G= (p.Leu911=) c.2997G= (p.Leu999=) c.2129-668G= (n.2129-668G=) n.3070G= n.3278G= c.2487G= (p.Leu829=) c.1512G= (p.Leu504=) c.2226G= (p.Leu742=) c.3204G= (p.Leu1068=) n.3022G= n.3230G= | |
1 | g.197434932G>T | CA422808755 | CRB1 | c.3069G>T (p.Leu1023=) c.1950G>T (p.Leu650=) c.1212G>T (p.Leu404=) c.2733G>T (p.Leu911=) c.2997G>T (p.Leu999=) c.2129-668G>T (n.2129-668G>T) n.3070G>T n.3278G>T c.2487G>T (p.Leu829=) c.1512G>T (p.Leu504=) c.2226G>T (p.Leu742=) c.3204G>T (p.Leu1068=) n.3022G>T n.3230G>T | |
1 | g.197434933del | CA2573051458 | CRB1 | c.3070del (p.Thr1024GlnfsTer6) c.1951del (p.Thr651GlnfsTer6) c.1213del (p.Thr405GlnfsTer6) c.2734del (p.Thr912GlnfsTer6) c.2998del (p.Thr1000GlnfsTer6) c.2129-667del (n.2129-667del) n.3071del n.3279del c.2488del (p.Thr830GlnfsTer6) c.1513del (p.Thr505GlnfsTer6) c.2227del (p.Thr743GlnfsTer6) c.3205del (p.Thr1069GlnfsTer6) n.3023del n.3231del | ClinVar dbSNP |
1 | g.197434933A>C | CA344045198 | CRB1 | c.3070A>C (p.Thr1024Pro) c.1951A>C (p.Thr651Pro) c.1213A>C (p.Thr405Pro) c.2734A>C (p.Thr912Pro) c.2998A>C (p.Thr1000Pro) c.2129-667A>C (n.2129-667A>C) n.3071A>C n.3279A>C c.2488A>C (p.Thr830Pro) c.1513A>C (p.Thr505Pro) c.2227A>C (p.Thr743Pro) c.3205A>C (p.Thr1069Pro) n.3023A>C n.3231A>C | |
1 | g.197434933A>G | CA344045199 | CRB1 | c.3070A>G (p.Thr1024Ala) c.1951A>G (p.Thr651Ala) c.1213A>G (p.Thr405Ala) c.2734A>G (p.Thr912Ala) c.2998A>G (p.Thr1000Ala) c.2129-667A>G (n.2129-667A>G) n.3071A>G n.3279A>G c.2488A>G (p.Thr830Ala) c.1513A>G (p.Thr505Ala) c.2227A>G (p.Thr743Ala) c.3205A>G (p.Thr1069Ala) n.3023A>G n.3231A>G | |
1 | g.197434933A>T | CA344045202 | CRB1 | c.3070A>T (p.Thr1024Ser) c.1951A>T (p.Thr651Ser) c.1213A>T (p.Thr405Ser) c.2734A>T (p.Thr912Ser) c.2998A>T (p.Thr1000Ser) c.2129-667A>T (n.2129-667A>T) n.3071A>T n.3279A>T c.2488A>T (p.Thr830Ser) c.1513A>T (p.Thr505Ser) c.2227A>T (p.Thr743Ser) c.3205A>T (p.Thr1069Ser) n.3023A>T n.3231A>T | |
1 | g.197434934C>A | CA344045206 | CRB1 | c.3071C>A (p.Thr1024Lys) c.1952C>A (p.Thr651Lys) c.1214C>A (p.Thr405Lys) c.2735C>A (p.Thr912Lys) c.2999C>A (p.Thr1000Lys) c.2129-666C>A (n.2129-666C>A) n.3072C>A n.3280C>A c.2489C>A (p.Thr830Lys) c.1514C>A (p.Thr505Lys) c.2228C>A (p.Thr743Lys) c.3206C>A (p.Thr1069Lys) n.3024C>A n.3232C>A | |
1 | g.197434934C>G | CA344045208 | CRB1 | c.3071C>G (p.Thr1024Arg) c.1952C>G (p.Thr651Arg) c.1214C>G (p.Thr405Arg) c.2735C>G (p.Thr912Arg) c.2999C>G (p.Thr1000Arg) c.2129-666C>G (n.2129-666C>G) n.3072C>G n.3280C>G c.2489C>G (p.Thr830Arg) c.1514C>G (p.Thr505Arg) c.2228C>G (p.Thr743Arg) c.3206C>G (p.Thr1069Arg) n.3024C>G n.3232C>G | |
1 | g.197434934C>T | CA344045212 | CRB1 | c.3071C>T (p.Thr1024Ile) c.1952C>T (p.Thr651Ile) c.1214C>T (p.Thr405Ile) c.2735C>T (p.Thr912Ile) c.2999C>T (p.Thr1000Ile) c.2129-666C>T (n.2129-666C>T) n.3072C>T n.3280C>T c.2489C>T (p.Thr830Ile) c.1514C>T (p.Thr505Ile) c.2228C>T (p.Thr743Ile) c.3206C>T (p.Thr1069Ile) n.3024C>T n.3232C>T | |
1 | g.197434935A>C | CA422808757 | CRB1 | c.3072A>C (p.Thr1024=) c.1953A>C (p.Thr651=) c.1215A>C (p.Thr405=) c.2736A>C (p.Thr912=) c.3000A>C (p.Thr1000=) c.2129-665A>C (n.2129-665A>C) n.3073A>C n.3281A>C c.2490A>C (p.Thr830=) c.1515A>C (p.Thr505=) c.2229A>C (p.Thr743=) c.3207A>C (p.Thr1069=) n.3025A>C n.3233A>C | |
1 | g.197434935A>G | CA422808761 | CRB1 | c.3072A>G (p.Thr1024=) c.1953A>G (p.Thr651=) c.1215A>G (p.Thr405=) c.2736A>G (p.Thr912=) c.3000A>G (p.Thr1000=) c.2129-665A>G (n.2129-665A>G) n.3073A>G n.3281A>G c.2490A>G (p.Thr830=) c.1515A>G (p.Thr505=) c.2229A>G (p.Thr743=) c.3207A>G (p.Thr1069=) n.3025A>G n.3233A>G | |
1 | g.197434935A>T | CA422808759 | CRB1 | c.3072A>T (p.Thr1024=) c.1953A>T (p.Thr651=) c.1215A>T (p.Thr405=) c.2736A>T (p.Thr912=) c.3000A>T (p.Thr1000=) c.2129-665A>T (n.2129-665A>T) n.3073A>T n.3281A>T c.2490A>T (p.Thr830=) c.1515A>T (p.Thr505=) c.2229A>T (p.Thr743=) c.3207A>T (p.Thr1069=) n.3025A>T n.3233A>T | |
1 | g.197434936A= | CA1218068725 | CRB1 | c.3073A= (p.Ser1025=) c.1954A= (p.Ser652=) c.1216A= (p.Ser406=) c.2737A= (p.Ser913=) c.3001A= (p.Ser1001=) c.2129-664A= (n.2129-664A=) n.3074A= n.3282A= c.2491A= (p.Ser831=) c.1516A= (p.Ser506=) c.2230A= (p.Ser744=) c.3208A= (p.Ser1070=) n.3026A= n.3234A= | |
1 | g.197434936A>C | CA344045217 | CRB1 | c.3073A>C (p.Ser1025Arg) c.1954A>C (p.Ser652Arg) c.1216A>C (p.Ser406Arg) c.2737A>C (p.Ser913Arg) c.3001A>C (p.Ser1001Arg) c.2129-664A>C (n.2129-664A>C) n.3074A>C n.3282A>C c.2491A>C (p.Ser831Arg) c.1516A>C (p.Ser506Arg) c.2230A>C (p.Ser744Arg) c.3208A>C (p.Ser1070Arg) n.3026A>C n.3234A>C | |
1 | g.197434936A>G | CA1312269 | CRB1 | c.3073A>G (p.Ser1025Gly) c.1954A>G (p.Ser652Gly) c.1216A>G (p.Ser406Gly) c.2737A>G (p.Ser913Gly) c.3001A>G (p.Ser1001Gly) c.2129-664A>G (n.2129-664A>G) n.3074A>G n.3282A>G c.2491A>G (p.Ser831Gly) c.1516A>G (p.Ser506Gly) c.2230A>G (p.Ser744Gly) c.3208A>G (p.Ser1070Gly) n.3026A>G n.3234A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434936A>T | CA344045219 | CRB1 | c.3073A>T (p.Ser1025Cys) c.1954A>T (p.Ser652Cys) c.1216A>T (p.Ser406Cys) c.2737A>T (p.Ser913Cys) c.3001A>T (p.Ser1001Cys) c.2129-664A>T (n.2129-664A>T) n.3074A>T n.3282A>T c.2491A>T (p.Ser831Cys) c.1516A>T (p.Ser506Cys) c.2230A>T (p.Ser744Cys) c.3208A>T (p.Ser1070Cys) n.3026A>T n.3234A>T | |
1 | g.197434937G>A | CA344045220 | CRB1 | c.3074G>A (p.Ser1025Asn) c.1955G>A (p.Ser652Asn) c.1217G>A (p.Ser406Asn) c.2738G>A (p.Ser913Asn) c.3002G>A (p.Ser1001Asn) c.2129-663G>A (n.2129-663G>A) n.3075G>A n.3283G>A c.2492G>A (p.Ser831Asn) c.1517G>A (p.Ser506Asn) c.2231G>A (p.Ser744Asn) c.3209G>A (p.Ser1070Asn) n.3027G>A n.3235G>A | ClinVar dbSNP gnomAD v4 |
1 | g.197434937G>C | CA344045223 | CRB1 | c.3074G>C (p.Ser1025Thr) c.1955G>C (p.Ser652Thr) c.1217G>C (p.Ser406Thr) c.2738G>C (p.Ser913Thr) c.3002G>C (p.Ser1001Thr) c.2129-663G>C (n.2129-663G>C) n.3075G>C n.3283G>C c.2492G>C (p.Ser831Thr) c.1517G>C (p.Ser506Thr) c.2231G>C (p.Ser744Thr) c.3209G>C (p.Ser1070Thr) n.3027G>C n.3235G>C | |
1 | g.197434937G= | CA1140762959 | CRB1 | c.3074G= (p.Ser1025=) c.1955G= (p.Ser652=) c.1217G= (p.Ser406=) c.2738G= (p.Ser913=) c.3002G= (p.Ser1001=) c.2129-663G= (n.2129-663G=) n.3075G= n.3283G= c.2492G= (p.Ser831=) c.1517G= (p.Ser506=) c.2231G= (p.Ser744=) c.3209G= (p.Ser1070=) n.3027G= n.3235G= | |
1 | g.197434937G>T | CA228030 | CRB1 | c.3074G>T (p.Ser1025Ile) c.1955G>T (p.Ser652Ile) c.1217G>T (p.Ser406Ile) c.2738G>T (p.Ser913Ile) c.3002G>T (p.Ser1001Ile) c.2129-663G>T (n.2129-663G>T) n.3075G>T n.3283G>T c.2492G>T (p.Ser831Ile) c.1517G>T (p.Ser506Ile) c.2231G>T (p.Ser744Ile) c.3209G>T (p.Ser1070Ile) n.3027G>T n.3235G>T | ClinVar dbSNP |
1 | g.197434938T>A | CA344045228 | CRB1 | c.3075T>A (p.Ser1025Arg) c.1956T>A (p.Ser652Arg) c.1218T>A (p.Ser406Arg) c.2739T>A (p.Ser913Arg) c.3003T>A (p.Ser1001Arg) c.2129-662T>A (n.2129-662T>A) n.3076T>A n.3284T>A c.2493T>A (p.Ser831Arg) c.1518T>A (p.Ser506Arg) c.2232T>A (p.Ser744Arg) c.3210T>A (p.Ser1070Arg) n.3028T>A n.3236T>A | |
1 | g.197434938T>C | CA422808763 | CRB1 | c.3075T>C (p.Ser1025=) c.1956T>C (p.Ser652=) c.1218T>C (p.Ser406=) c.2739T>C (p.Ser913=) c.3003T>C (p.Ser1001=) c.2129-662T>C (n.2129-662T>C) n.3076T>C n.3284T>C c.2493T>C (p.Ser831=) c.1518T>C (p.Ser506=) c.2232T>C (p.Ser744=) c.3210T>C (p.Ser1070=) n.3028T>C n.3236T>C | ClinVar |
1 | g.197434938T>G | CA344045232 | CRB1 | c.3075T>G (p.Ser1025Arg) c.1956T>G (p.Ser652Arg) c.1218T>G (p.Ser406Arg) c.2739T>G (p.Ser913Arg) c.3003T>G (p.Ser1001Arg) c.2129-662T>G (n.2129-662T>G) n.3076T>G n.3284T>G c.2493T>G (p.Ser831Arg) c.1518T>G (p.Ser506Arg) c.2232T>G (p.Ser744Arg) c.3210T>G (p.Ser1070Arg) n.3028T>G n.3236T>G | |
1 | g.197434939T>A | CA344045233 | CRB1 | c.3076T>A (p.Leu1026Met) c.1957T>A (p.Leu653Met) c.1219T>A (p.Leu407Met) c.2740T>A (p.Leu914Met) c.3004T>A (p.Leu1002Met) c.2129-661T>A (n.2129-661T>A) n.3077T>A n.3285T>A c.2494T>A (p.Leu832Met) c.1519T>A (p.Leu507Met) c.2233T>A (p.Leu745Met) c.3211T>A (p.Leu1071Met) n.3029T>A n.3237T>A | |
1 | g.197434939T>C | CA422808765 | CRB1 | c.3076T>C (p.Leu1026=) c.1957T>C (p.Leu653=) c.1219T>C (p.Leu407=) c.2740T>C (p.Leu914=) c.3004T>C (p.Leu1002=) c.2129-661T>C (n.2129-661T>C) n.3077T>C n.3285T>C c.2494T>C (p.Leu832=) c.1519T>C (p.Leu507=) c.2233T>C (p.Leu745=) c.3211T>C (p.Leu1071=) n.3029T>C n.3237T>C | gnomAD v4 |
1 | g.197434939T>G | CA344045234 | CRB1 | c.3076T>G (p.Leu1026Val) c.1957T>G (p.Leu653Val) c.1219T>G (p.Leu407Val) c.2740T>G (p.Leu914Val) c.3004T>G (p.Leu1002Val) c.2129-661T>G (n.2129-661T>G) n.3077T>G n.3285T>G c.2494T>G (p.Leu832Val) c.1519T>G (p.Leu507Val) c.2233T>G (p.Leu745Val) c.3211T>G (p.Leu1071Val) n.3029T>G n.3237T>G | |
1 | g.197434940T>A | CA344045236 | CRB1 | c.3077T>A (p.Leu1026Ter) c.1958T>A (p.Leu653Ter) c.1220T>A (p.Leu407Ter) c.2741T>A (p.Leu914Ter) c.3005T>A (p.Leu1002Ter) c.2129-660T>A (n.2129-660T>A) n.3078T>A n.3286T>A c.2495T>A (p.Leu832Ter) c.1520T>A (p.Leu507Ter) c.2234T>A (p.Leu745Ter) c.3212T>A (p.Leu1071Ter) n.3030T>A n.3238T>A | |
1 | g.197434940T>C | CA344045239 | CRB1 | c.3077T>C (p.Leu1026Ser) c.1958T>C (p.Leu653Ser) c.1220T>C (p.Leu407Ser) c.2741T>C (p.Leu914Ser) c.3005T>C (p.Leu1002Ser) c.2129-660T>C (n.2129-660T>C) n.3078T>C n.3286T>C c.2495T>C (p.Leu832Ser) c.1520T>C (p.Leu507Ser) c.2234T>C (p.Leu745Ser) c.3212T>C (p.Leu1071Ser) n.3030T>C n.3238T>C | gnomAD v4 |
1 | g.197434940T>G | CA344045242 | CRB1 | c.3077T>G (p.Leu1026Trp) c.1958T>G (p.Leu653Trp) c.1220T>G (p.Leu407Trp) c.2741T>G (p.Leu914Trp) c.3005T>G (p.Leu1002Trp) c.2129-660T>G (n.2129-660T>G) n.3078T>G n.3286T>G c.2495T>G (p.Leu832Trp) c.1520T>G (p.Leu507Trp) c.2234T>G (p.Leu745Trp) c.3212T>G (p.Leu1071Trp) n.3030T>G n.3238T>G | |
1 | g.197434941G>A | CA422808766 | CRB1 | c.3078G>A (p.Leu1026=) c.1959G>A (p.Leu653=) c.1221G>A (p.Leu407=) c.2742G>A (p.Leu914=) c.3006G>A (p.Leu1002=) c.2129-659G>A (n.2129-659G>A) n.3079G>A n.3287G>A c.2496G>A (p.Leu832=) c.1521G>A (p.Leu507=) c.2235G>A (p.Leu745=) c.3213G>A (p.Leu1071=) n.3031G>A n.3239G>A | |
1 | g.197434941G>C | CA344045247 | CRB1 | c.3078G>C (p.Leu1026Phe) c.1959G>C (p.Leu653Phe) c.1221G>C (p.Leu407Phe) c.2742G>C (p.Leu914Phe) c.3006G>C (p.Leu1002Phe) c.2129-659G>C (n.2129-659G>C) n.3079G>C n.3287G>C c.2496G>C (p.Leu832Phe) c.1521G>C (p.Leu507Phe) c.2235G>C (p.Leu745Phe) c.3213G>C (p.Leu1071Phe) n.3031G>C n.3239G>C | |
1 | g.197434941G= | CA1218068726 | CRB1 | c.3078G= (p.Leu1026=) c.1959G= (p.Leu653=) c.1221G= (p.Leu407=) c.2742G= (p.Leu914=) c.3006G= (p.Leu1002=) c.2129-659G= (n.2129-659G=) n.3079G= n.3287G= c.2496G= (p.Leu832=) c.1521G= (p.Leu507=) c.2235G= (p.Leu745=) c.3213G= (p.Leu1071=) n.3031G= n.3239G= | |
1 | g.197434941G>T | CA344045261 | CRB1 | c.3078G>T (p.Leu1026Phe) c.1959G>T (p.Leu653Phe) c.1221G>T (p.Leu407Phe) c.2742G>T (p.Leu914Phe) c.3006G>T (p.Leu1002Phe) c.2129-659G>T (n.2129-659G>T) n.3079G>T n.3287G>T c.2496G>T (p.Leu832Phe) c.1521G>T (p.Leu507Phe) c.2235G>T (p.Leu745Phe) c.3213G>T (p.Leu1071Phe) n.3031G>T n.3239G>T | dbSNP |
1 | g.197434942C>A | CA344045268 | CRB1 | c.3079C>A (p.Gln1027Lys) c.1960C>A (p.Gln654Lys) c.1222C>A (p.Gln408Lys) c.2743C>A (p.Gln915Lys) c.3007C>A (p.Gln1003Lys) c.2129-658C>A (n.2129-658C>A) n.3080C>A n.3288C>A c.2497C>A (p.Gln833Lys) c.1522C>A (p.Gln508Lys) c.2236C>A (p.Gln746Lys) c.3214C>A (p.Gln1072Lys) n.3032C>A n.3240C>A | |
1 | g.197434942C>G | CA344045271 | CRB1 | c.3079C>G (p.Gln1027Glu) c.1960C>G (p.Gln654Glu) c.1222C>G (p.Gln408Glu) c.2743C>G (p.Gln915Glu) c.3007C>G (p.Gln1003Glu) c.2129-658C>G (n.2129-658C>G) n.3080C>G n.3288C>G c.2497C>G (p.Gln833Glu) c.1522C>G (p.Gln508Glu) c.2236C>G (p.Gln746Glu) c.3214C>G (p.Gln1072Glu) n.3032C>G n.3240C>G | |
1 | g.197434942C>T | CA344045274 | CRB1 | c.3079C>T (p.Gln1027Ter) c.1960C>T (p.Gln654Ter) c.1222C>T (p.Gln408Ter) c.2743C>T (p.Gln915Ter) c.3007C>T (p.Gln1003Ter) c.2129-658C>T (n.2129-658C>T) n.3080C>T n.3288C>T c.2497C>T (p.Gln833Ter) c.1522C>T (p.Gln508Ter) c.2236C>T (p.Gln746Ter) c.3214C>T (p.Gln1072Ter) n.3032C>T n.3240C>T | COSMIC |
1 | g.197434942_197434943delinsCA | CA1218068727 | CRB1 | c.3079_3080delinsCA (p.Gln1027=) c.1960_1961delinsCA (p.Gln654=) c.1222_1223delinsCA (p.Gln408=) c.2743_2744delinsCA (p.Gln915=) c.3007_3008delinsCA (p.Gln1003=) c.2129-658_2129-657delinsCA (n.2129-658_2129-657delinsCA) n.3080_3081delinsCA n.3288_3289delinsCA c.2497_2498delinsCA (p.Gln833=) c.1522_1523delinsCA (p.Gln508=) c.2236_2237delinsCA (p.Gln746=) c.3214_3215delinsCA (p.Gln1072=) n.3032_3033delinsCA n.3240_3241delinsCA |